SNP Links for Protein (Select 1022943159) - SNP

Links from Protein

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Select item 14849642641.

rs1484964264 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:56265729 (GRCh38)
X:56292162 (GRCh37)
Canonical SPDI:: NC_000023.11:56265728:A:C,NC_000023.11:56265728:A:G
Gene:: KLF8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000054/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56265729A>C, NC_000023.11:g.56265729A>G, NC_000023.10:g.56292162A>C, NC_000023.10:g.56292162A>G, NG_011949.2:g.362607A>C, NG_011949.2:g.362607A>G, NM_007250.5:c.631A>C, NM_007250.5:c.631A>G, NM_007250.4:c.631A>C, NM_007250.4:c.631A>G, NM_001159296.2:c.631A>C, NM_001159296.2:c.631A>G, NM_001159296.1:c.631A>C, NM_001159296.1:c.631A>G, NR_136705.1:n.1610A>C, NR_136705.1:n.1610A>G, NM_001324105.1:c.622A>C, NM_001324105.1:c.622A>G, NM_001324102.1:c.631A>C, NM_001324102.1:c.631A>G, NM_001324104.1:c.646A>C, NM_001324104.1:c.646A>G, NR_136704.1:n.808A>C, NR_136704.1:n.808A>G, NM_001324099.1:c.616A>C, NM_001324099.1:c.616A>G, NM_001324100.1:c.631A>C, NM_001324100.1:c.631A>G, XM_006724575.3:c.631A>C, XM_006724575.3:c.631A>G, XM_006724575.2:c.631A>C, XM_006724575.2:c.631A>G, XM_006724575.1:c.631A>C, XM_006724575.1:c.631A>G, XM_017029250.3:c.616A>C, XM_017029250.3:c.616A>G, XM_017029250.2:c.616A>C, XM_017029250.2:c.616A>G, XM_017029250.1:c.616A>C, XM_017029250.1:c.616A>G, XM_024452332.2:c.631A>C, XM_024452332.2:c.631A>G, XM_024452332.1:c.631A>C, XM_024452332.1:c.631A>G, XM_047441795.1:c.631A>C, XM_047441795.1:c.631A>G, XM_047441799.1:c.631A>C, XM_047441799.1:c.631A>G, XM_047441797.1:c.631A>C, XM_047441797.1:c.631A>G, XM_047441796.1:c.631A>C, XM_047441796.1:c.631A>G, XM_047441798.1:c.631A>C, XM_047441798.1:c.631A>G, XM_047441800.1:c.616A>C, XM_047441800.1:c.616A>G, NP_009181.2:p.Lys211Gln, NP_009181.2:p.Lys211Glu, NP_001152768.1:p.Lys211Gln, NP_001152768.1:p.Lys211Glu, NP_001311034.1:p.Lys208Gln, NP_001311034.1:p.Lys208Glu, NP_001311031.1:p.Lys211Gln, NP_001311031.1:p.Lys211Glu, NP_001311033.1:p.Lys216Gln, NP_001311033.1:p.Lys216Glu, NP_001311028.1:p.Lys206Gln, NP_001311028.1:p.Lys206Glu, NP_001311029.1:p.Lys211Gln, NP_001311029.1:p.Lys211Glu, XP_006724638.1:p.Lys211Gln, XP_006724638.1:p.Lys211Glu, XP_016884739.1:p.Lys206Gln, XP_016884739.1:p.Lys206Glu, XP_024308100.1:p.Lys211Gln, XP_024308100.1:p.Lys211Glu, XP_047297751.1:p.Lys211Gln, XP_047297751.1:p.Lys211Glu, XP_047297755.1:p.Lys211Gln, XP_047297755.1:p.Lys211Glu, XP_047297753.1:p.Lys211Gln, XP_047297753.1:p.Lys211Glu, XP_047297752.1:p.Lys211Gln, XP_047297752.1:p.Lys211Glu, XP_047297754.1:p.Lys211Gln, XP_047297754.1:p.Lys211Glu, XP_047297756.1:p.Lys206Gln, XP_047297756.1:p.Lys206Glu

Select item 14844598472.

rs1484459847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: X:56265431 (GRCh38)
X:56291864 (GRCh37)
Canonical SPDI:: NC_000023.11:56265430:C:A,NC_000023.11:56265430:C:G
Gene:: KLF8 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.56265431C>A, NC_000023.11:g.56265431C>G, NC_000023.10:g.56291864C>A, NC_000023.10:g.56291864C>G, NG_011949.2:g.362309C>A, NG_011949.2:g.362309C>G, NM_007250.5:c.333C>A, NM_007250.5:c.333C>G, NM_007250.4:c.333C>A, NM_007250.4:c.333C>G, NM_001159296.2:c.333C>A, NM_001159296.2:c.333C>G, NM_001159296.1:c.333C>A, NM_001159296.1:c.333C>G, NR_136705.1:n.1312C>A, NR_136705.1:n.1312C>G, NM_001324105.1:c.324C>A, NM_001324105.1:c.324C>G, NM_001324102.1:c.333C>A, NM_001324102.1:c.333C>G, NM_001324104.1:c.348C>A, NM_001324104.1:c.348C>G, NR_136704.1:n.510C>A, NR_136704.1:n.510C>G, NM_001324099.1:c.318C>A, NM_001324099.1:c.318C>G, NM_001324100.1:c.333C>A, NM_001324100.1:c.333C>G, XM_006724575.3:c.333C>A, XM_006724575.3:c.333C>G, XM_006724575.2:c.333C>A, XM_006724575.2:c.333C>G, XM_006724575.1:c.333C>A, XM_006724575.1:c.333C>G, XM_017029250.3:c.318C>A, XM_017029250.3:c.318C>G, XM_017029250.2:c.318C>A, XM_017029250.2:c.318C>G, XM_017029250.1:c.318C>A, XM_017029250.1:c.318C>G, XM_024452332.2:c.333C>A, XM_024452332.2:c.333C>G, XM_024452332.1:c.333C>A, XM_024452332.1:c.333C>G, XM_047441795.1:c.333C>A, XM_047441795.1:c.333C>G, XM_047441799.1:c.333C>A, XM_047441799.1:c.333C>G, XM_047441797.1:c.333C>A, XM_047441797.1:c.333C>G, XM_047441796.1:c.333C>A, XM_047441796.1:c.333C>G, XM_047441798.1:c.333C>A, XM_047441798.1:c.333C>G, XM_047441800.1:c.318C>A, XM_047441800.1:c.318C>G

Select item 14771478073.

rs1477147807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:56269477 (GRCh38)
X:56295910 (GRCh37)
Canonical SPDI:: NC_000023.11:56269476:G:A,NC_000023.11:56269476:G:C
Gene:: KLF8 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.56269477G>A, NC_000023.11:g.56269477G>C, NC_000023.10:g.56295910G>A, NC_000023.10:g.56295910G>C, NG_011949.2:g.366355G>A, NG_011949.2:g.366355G>C, NM_007250.5:c.746G>A, NM_007250.5:c.746G>C, NM_007250.4:c.746G>A, NM_007250.4:c.746G>C, NM_001159296.2:c.746G>A, NM_001159296.2:c.746G>C, NM_001159296.1:c.746G>A, NM_001159296.1:c.746G>C, NR_136705.1:n.5358G>A, NR_136705.1:n.5358G>C, NM_001324105.1:c.737G>A, NM_001324105.1:c.737G>C, NM_001324102.1:c.746G>A, NM_001324102.1:c.746G>C, NM_001324104.1:c.761G>A, NM_001324104.1:c.761G>C, NR_136704.1:n.1002G>A, NR_136704.1:n.1002G>C, NM_001324099.1:c.731G>A, NM_001324099.1:c.731G>C, XM_006724575.3:c.746G>A, XM_006724575.3:c.746G>C, XM_006724575.2:c.746G>A, XM_006724575.2:c.746G>C, XM_006724575.1:c.746G>A, XM_006724575.1:c.746G>C, XM_017029250.3:c.731G>A, XM_017029250.3:c.731G>C, XM_017029250.2:c.731G>A, XM_017029250.2:c.731G>C, XM_017029250.1:c.731G>A, XM_017029250.1:c.731G>C, XM_047441795.1:c.746G>A, XM_047441795.1:c.746G>C, XM_047441799.1:c.746G>A, XM_047441799.1:c.746G>C, XM_047441797.1:c.746G>A, XM_047441797.1:c.746G>C, XM_047441796.1:c.746G>A, XM_047441796.1:c.746G>C, XM_047441798.1:c.746G>A, XM_047441798.1:c.746G>C, XM_047441800.1:c.731G>A, XM_047441800.1:c.731G>C, NP_009181.2:p.Gly249Glu, NP_009181.2:p.Gly249Ala, NP_001152768.1:p.Gly249Glu, NP_001152768.1:p.Gly249Ala, NP_001311034.1:p.Gly246Glu, NP_001311034.1:p.Gly246Ala, NP_001311031.1:p.Gly249Glu, NP_001311031.1:p.Gly249Ala, NP_001311033.1:p.Gly254Glu, NP_001311033.1:p.Gly254Ala, NP_001311028.1:p.Gly244Glu, NP_001311028.1:p.Gly244Ala, XP_006724638.1:p.Gly249Glu, XP_006724638.1:p.Gly249Ala, XP_016884739.1:p.Gly244Glu, XP_016884739.1:p.Gly244Ala, XP_047297751.1:p.Gly249Glu, XP_047297751.1:p.Gly249Ala, XP_047297755.1:p.Gly249Glu, XP_047297755.1:p.Gly249Ala, XP_047297753.1:p.Gly249Glu, XP_047297753.1:p.Gly249Ala, XP_047297752.1:p.Gly249Glu, XP_047297752.1:p.Gly249Ala, XP_047297754.1:p.Gly249Glu, XP_047297754.1:p.Gly249Ala, XP_047297756.1:p.Gly244Glu, XP_047297756.1:p.Gly244Ala

Select item 14706128854.

rs1470612885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56265710 (GRCh38)
X:56292143 (GRCh37)
Canonical SPDI:: NC_000023.11:56265709:A:G
Gene:: KLF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
G=0.00153/20 (TOMMO)
HGVS:: NC_000023.11:g.56265710A>G, NC_000023.10:g.56292143A>G, NG_011949.2:g.362588A>G, NM_007250.5:c.612A>G, NM_007250.4:c.612A>G, NM_001159296.2:c.612A>G, NM_001159296.1:c.612A>G, NR_136705.1:n.1591A>G, NM_001324105.1:c.603A>G, NM_001324102.1:c.612A>G, NM_001324104.1:c.627A>G, NR_136704.1:n.789A>G, NM_001324099.1:c.597A>G, NM_001324100.1:c.612A>G, XM_006724575.3:c.612A>G, XM_006724575.2:c.612A>G, XM_006724575.1:c.612A>G, XM_017029250.3:c.597A>G, XM_017029250.2:c.597A>G, XM_017029250.1:c.597A>G, XM_024452332.2:c.612A>G, XM_024452332.1:c.612A>G, XM_047441795.1:c.612A>G, XM_047441799.1:c.612A>G, XM_047441797.1:c.612A>G, XM_047441796.1:c.612A>G, XM_047441798.1:c.612A>G, XM_047441800.1:c.597A>G

Select item 14700902665.

rs1470090266 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:56284436 (GRCh38)
X:56310869 (GRCh37)
Canonical SPDI:: NC_000023.11:56284435:G:T
Gene:: KLF8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.56284436G>T, NC_000023.10:g.56310869G>T, NG_011949.2:g.381314G>T, NM_007250.5:c.1022G>T, NM_007250.4:c.1022G>T, NM_001159296.2:c.*108G>T, NM_001159296.1:c.*108G>T, NR_136705.1:n.5634G>T, NM_001324105.1:c.1013G>T, NM_001324102.1:c.1022G>T, NM_001324104.1:c.1037G>T, NR_136704.1:n.1278G>T, NM_001324099.1:c.*108G>T, NM_001324100.1:c.770G>T, XM_006724575.3:c.*108G>T, XM_006724575.2:c.*108G>T, XM_006724575.1:c.*108G>T, XM_017029250.3:c.1007G>T, XM_017029250.2:c.1007G>T, XM_017029250.1:c.1007G>T, XM_047441795.1:c.1022G>T, XM_047441799.1:c.1022G>T, XM_047441797.1:c.1022G>T, XM_047441796.1:c.1022G>T, XM_047441798.1:c.1022G>T, XM_047441800.1:c.1007G>T, NP_009181.2:p.Arg341Leu, NP_001311034.1:p.Arg338Leu, NP_001311031.1:p.Arg341Leu, NP_001311033.1:p.Arg346Leu, NP_001311029.1:p.Arg257Leu, XP_016884739.1:p.Arg336Leu, XP_047297751.1:p.Arg341Leu, XP_047297755.1:p.Arg341Leu, XP_047297753.1:p.Arg341Leu, XP_047297752.1:p.Arg341Leu, XP_047297754.1:p.Arg341Leu, XP_047297756.1:p.Arg336Leu

Select item 14579823436.

rs1457982343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:56250243 (GRCh38)
X:56276676 (GRCh37)
Canonical SPDI:: NC_000023.11:56250242:T:C
Gene:: KLF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.56250243T>C, NC_000023.10:g.56276676T>C, NG_011949.2:g.347121T>C, NM_007250.5:c.20T>C, NM_007250.4:c.20T>C, NM_001159296.2:c.20T>C, NM_001159296.1:c.20T>C, NR_136705.1:n.999T>C, NM_001324105.1:c.11T>C, NM_001324102.1:c.20T>C, NM_001324104.1:c.35T>C, NR_136704.1:n.197T>C, NM_001324100.1:c.20T>C, XM_006724575.3:c.20T>C, XM_006724575.2:c.20T>C, XM_006724575.1:c.20T>C, XM_024452332.2:c.20T>C, XM_024452332.1:c.20T>C, XM_047441795.1:c.20T>C, XM_047441799.1:c.20T>C, XM_047441797.1:c.20T>C, XM_047441796.1:c.20T>C, XM_047441798.1:c.20T>C, NP_009181.2:p.Leu7Pro, NP_001152768.1:p.Leu7Pro, NP_001311034.1:p.Leu4Pro, NP_001311031.1:p.Leu7Pro, NP_001311033.1:p.Leu12Pro, NP_001311029.1:p.Leu7Pro, XP_006724638.1:p.Leu7Pro, XP_024308100.1:p.Leu7Pro, XP_047297751.1:p.Leu7Pro, XP_047297755.1:p.Leu7Pro, XP_047297753.1:p.Leu7Pro, XP_047297752.1:p.Leu7Pro, XP_047297754.1:p.Leu7Pro

Select item 14567235877.

rs1456723587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:56269438 (GRCh38)
X:56295871 (GRCh37)
Canonical SPDI:: NC_000023.11:56269437:C:A
Gene:: KLF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56269438C>A, NC_000023.10:g.56295871C>A, NG_011949.2:g.366316C>A, NM_007250.5:c.707C>A, NM_007250.4:c.707C>A, NM_001159296.2:c.707C>A, NM_001159296.1:c.707C>A, NR_136705.1:n.5319C>A, NM_001324105.1:c.698C>A, NM_001324102.1:c.707C>A, NM_001324104.1:c.722C>A, NR_136704.1:n.963C>A, NM_001324099.1:c.692C>A, XM_006724575.3:c.707C>A, XM_006724575.2:c.707C>A, XM_006724575.1:c.707C>A, XM_017029250.3:c.692C>A, XM_017029250.2:c.692C>A, XM_017029250.1:c.692C>A, XM_047441795.1:c.707C>A, XM_047441799.1:c.707C>A, XM_047441797.1:c.707C>A, XM_047441796.1:c.707C>A, XM_047441798.1:c.707C>A, XM_047441800.1:c.692C>A, NP_009181.2:p.Thr236Lys, NP_001152768.1:p.Thr236Lys, NP_001311034.1:p.Thr233Lys, NP_001311031.1:p.Thr236Lys, NP_001311033.1:p.Thr241Lys, NP_001311028.1:p.Thr231Lys, XP_006724638.1:p.Thr236Lys, XP_016884739.1:p.Thr231Lys, XP_047297751.1:p.Thr236Lys, XP_047297755.1:p.Thr236Lys, XP_047297753.1:p.Thr236Lys, XP_047297752.1:p.Thr236Lys, XP_047297754.1:p.Thr236Lys, XP_047297756.1:p.Thr231Lys

Select item 14565828198.

rs1456582819 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56284408 (GRCh38)
X:56310841 (GRCh37)
Canonical SPDI:: NC_000023.11:56284407:A:G
Gene:: KLF8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000023.11:g.56284408A>G, NC_000023.10:g.56310841A>G, NG_011949.2:g.381286A>G, NM_007250.5:c.994A>G, NM_007250.4:c.994A>G, NM_001159296.2:c.*80A>G, NM_001159296.1:c.*80A>G, NR_136705.1:n.5606A>G, NM_001324105.1:c.985A>G, NM_001324102.1:c.994A>G, NM_001324104.1:c.1009A>G, NR_136704.1:n.1250A>G, NM_001324099.1:c.*80A>G, NM_001324100.1:c.742A>G, XM_006724575.3:c.*80A>G, XM_006724575.2:c.*80A>G, XM_006724575.1:c.*80A>G, XM_017029250.3:c.979A>G, XM_017029250.2:c.979A>G, XM_017029250.1:c.979A>G, XM_047441795.1:c.994A>G, XM_047441799.1:c.994A>G, XM_047441797.1:c.994A>G, XM_047441796.1:c.994A>G, XM_047441798.1:c.994A>G, XM_047441800.1:c.979A>G, NP_009181.2:p.Lys332Glu, NP_001311034.1:p.Lys329Glu, NP_001311031.1:p.Lys332Glu, NP_001311033.1:p.Lys337Glu, NP_001311029.1:p.Lys248Glu, XP_016884739.1:p.Lys327Glu, XP_047297751.1:p.Lys332Glu, XP_047297755.1:p.Lys332Glu, XP_047297753.1:p.Lys332Glu, XP_047297752.1:p.Lys332Glu, XP_047297754.1:p.Lys332Glu, XP_047297756.1:p.Lys327Glu

Select item 14560427569.

rs1456042756 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: X:56265593 (GRCh38)
X:56292027 (GRCh37)
Canonical SPDI:: NC_000023.11:56265593::T
Gene:: KLF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.56265593_56265594insT, NC_000023.10:g.56292026_56292027insT, NG_011949.2:g.362471_362472insT, NM_007250.5:c.495_496insT, NM_007250.4:c.495_496insT, NM_001159296.2:c.495_496insT, NM_001159296.1:c.495_496insT, NR_136705.1:n.1474_1475insT, NM_001324105.1:c.486_487insT, NM_001324102.1:c.495_496insT, NM_001324104.1:c.510_511insT, NR_136704.1:n.672_673insT, NM_001324099.1:c.480_481insT, NM_001324100.1:c.495_496insT, XM_006724575.3:c.495_496insT, XM_006724575.2:c.495_496insT, XM_006724575.1:c.495_496insT, XM_017029250.3:c.480_481insT, XM_017029250.2:c.480_481insT, XM_017029250.1:c.480_481insT, XM_024452332.2:c.495_496insT, XM_024452332.1:c.495_496insT, XM_047441795.1:c.495_496insT, XM_047441799.1:c.495_496insT, XM_047441797.1:c.495_496insT, XM_047441796.1:c.495_496insT, XM_047441798.1:c.495_496insT, XM_047441800.1:c.480_481insT, NP_009181.2:p.Val166fs, NP_001152768.1:p.Val166fs, NP_001311034.1:p.Val163fs, NP_001311031.1:p.Val166fs, NP_001311033.1:p.Val171fs, NP_001311028.1:p.Val161fs, NP_001311029.1:p.Val166fs, XP_006724638.1:p.Val166fs, XP_016884739.1:p.Val161fs, XP_024308100.1:p.Val166fs, XP_047297751.1:p.Val166fs, XP_047297755.1:p.Val166fs, XP_047297753.1:p.Val166fs, XP_047297752.1:p.Val166fs, XP_047297754.1:p.Val166fs, XP_047297756.1:p.Val161fs

Select item 145362495610.

rs1453624956 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:56270245 (GRCh38)
X:56296678 (GRCh37)
Canonical SPDI:: NC_000023.11:56270244:C:T
Gene:: KLF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.56270245C>T, NC_000023.10:g.56296678C>T, NG_011949.2:g.367123C>T, NM_007250.5:c.822C>T, NM_007250.4:c.822C>T, NR_136705.1:n.5434C>T, NM_001324105.1:c.813C>T, NM_001324102.1:c.822C>T, NM_001324104.1:c.837C>T, NR_136704.1:n.1078C>T, XM_017029250.3:c.807C>T, XM_017029250.2:c.807C>T, XM_017029250.1:c.807C>T, XM_047441795.1:c.822C>T, XM_047441799.1:c.822C>T, XM_047441797.1:c.822C>T, XM_047441796.1:c.822C>T, XM_047441798.1:c.822C>T, XM_047441800.1:c.807C>T

Select item 145187448111.

rs1451874481 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:56265391 (GRCh38)
X:56291824 (GRCh37)
Canonical SPDI:: NC_000023.11:56265390:T:C
Gene:: KLF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56265391T>C, NC_000023.10:g.56291824T>C, NG_011949.2:g.362269T>C, NM_007250.5:c.293T>C, NM_007250.4:c.293T>C, NM_001159296.2:c.293T>C, NM_001159296.1:c.293T>C, NR_136705.1:n.1272T>C, NM_001324105.1:c.284T>C, NM_001324102.1:c.293T>C, NM_001324104.1:c.308T>C, NR_136704.1:n.470T>C, NM_001324099.1:c.278T>C, NM_001324100.1:c.293T>C, XM_006724575.3:c.293T>C, XM_006724575.2:c.293T>C, XM_006724575.1:c.293T>C, XM_017029250.3:c.278T>C, XM_017029250.2:c.278T>C, XM_017029250.1:c.278T>C, XM_024452332.2:c.293T>C, XM_024452332.1:c.293T>C, XM_047441795.1:c.293T>C, XM_047441799.1:c.293T>C, XM_047441797.1:c.293T>C, XM_047441796.1:c.293T>C, XM_047441798.1:c.293T>C, XM_047441800.1:c.278T>C, NP_009181.2:p.Leu98Pro, NP_001152768.1:p.Leu98Pro, NP_001311034.1:p.Leu95Pro, NP_001311031.1:p.Leu98Pro, NP_001311033.1:p.Leu103Pro, NP_001311028.1:p.Leu93Pro, NP_001311029.1:p.Leu98Pro, XP_006724638.1:p.Leu98Pro, XP_016884739.1:p.Leu93Pro, XP_024308100.1:p.Leu98Pro, XP_047297751.1:p.Leu98Pro, XP_047297755.1:p.Leu98Pro, XP_047297753.1:p.Leu98Pro, XP_047297752.1:p.Leu98Pro, XP_047297754.1:p.Leu98Pro, XP_047297756.1:p.Leu93Pro

Select item 143865896512.

rs1438658965 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:56250300 (GRCh38)
X:56276733 (GRCh37)
Canonical SPDI:: NC_000023.11:56250299:A:C,NC_000023.11:56250299:A:G
Gene:: KLF8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000187/2 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.56250300A>C, NC_000023.11:g.56250300A>G, NC_000023.10:g.56276733A>C, NC_000023.10:g.56276733A>G, NG_011949.2:g.347178A>C, NG_011949.2:g.347178A>G, NM_007250.5:c.77A>C, NM_007250.5:c.77A>G, NM_007250.4:c.77A>C, NM_007250.4:c.77A>G, NM_001159296.2:c.77A>C, NM_001159296.2:c.77A>G, NM_001159296.1:c.77A>C, NM_001159296.1:c.77A>G, NR_136705.1:n.1056A>C, NR_136705.1:n.1056A>G, NM_001324105.1:c.68A>C, NM_001324105.1:c.68A>G, NM_001324102.1:c.77A>C, NM_001324102.1:c.77A>G, NM_001324104.1:c.92A>C, NM_001324104.1:c.92A>G, NR_136704.1:n.254A>C, NR_136704.1:n.254A>G, NM_001324100.1:c.77A>C, NM_001324100.1:c.77A>G, XM_006724575.3:c.77A>C, XM_006724575.3:c.77A>G, XM_006724575.2:c.77A>C, XM_006724575.2:c.77A>G, XM_006724575.1:c.77A>C, XM_006724575.1:c.77A>G, XM_024452332.2:c.77A>C, XM_024452332.2:c.77A>G, XM_024452332.1:c.77A>C, XM_024452332.1:c.77A>G, XM_047441795.1:c.77A>C, XM_047441795.1:c.77A>G, XM_047441799.1:c.77A>C, XM_047441799.1:c.77A>G, XM_047441797.1:c.77A>C, XM_047441797.1:c.77A>G, XM_047441796.1:c.77A>C, XM_047441796.1:c.77A>G, XM_047441798.1:c.77A>C, XM_047441798.1:c.77A>G, NP_009181.2:p.Lys26Thr, NP_009181.2:p.Lys26Arg, NP_001152768.1:p.Lys26Thr, NP_001152768.1:p.Lys26Arg, NP_001311034.1:p.Lys23Thr, NP_001311034.1:p.Lys23Arg, NP_001311031.1:p.Lys26Thr, NP_001311031.1:p.Lys26Arg, NP_001311033.1:p.Lys31Thr, NP_001311033.1:p.Lys31Arg, NP_001311029.1:p.Lys26Thr, NP_001311029.1:p.Lys26Arg, XP_006724638.1:p.Lys26Thr, XP_006724638.1:p.Lys26Arg, XP_024308100.1:p.Lys26Thr, XP_024308100.1:p.Lys26Arg, XP_047297751.1:p.Lys26Thr, XP_047297751.1:p.Lys26Arg, XP_047297755.1:p.Lys26Thr, XP_047297755.1:p.Lys26Arg, XP_047297753.1:p.Lys26Thr, XP_047297753.1:p.Lys26Arg, XP_047297752.1:p.Lys26Thr, XP_047297752.1:p.Lys26Arg, XP_047297754.1:p.Lys26Thr, XP_047297754.1:p.Lys26Arg

Select item 143802821013.

rs1438028210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:56265344 (GRCh38)
X:56291777 (GRCh37)
Canonical SPDI:: NC_000023.11:56265343:C:G,NC_000023.11:56265343:C:T
Gene:: KLF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000023.11:g.56265344C>G, NC_000023.11:g.56265344C>T, NC_000023.10:g.56291777C>G, NC_000023.10:g.56291777C>T, NG_011949.2:g.362222C>G, NG_011949.2:g.362222C>T, NM_007250.5:c.246C>G, NM_007250.5:c.246C>T, NM_007250.4:c.246C>G, NM_007250.4:c.246C>T, NM_001159296.2:c.246C>G, NM_001159296.2:c.246C>T, NM_001159296.1:c.246C>G, NM_001159296.1:c.246C>T, NR_136705.1:n.1225C>G, NR_136705.1:n.1225C>T, NM_001324105.1:c.237C>G, NM_001324105.1:c.237C>T, NM_001324102.1:c.246C>G, NM_001324102.1:c.246C>T, NM_001324104.1:c.261C>G, NM_001324104.1:c.261C>T, NR_136704.1:n.423C>G, NR_136704.1:n.423C>T, NM_001324099.1:c.231C>G, NM_001324099.1:c.231C>T, NM_001324100.1:c.246C>G, NM_001324100.1:c.246C>T, XM_006724575.3:c.246C>G, XM_006724575.3:c.246C>T, XM_006724575.2:c.246C>G, XM_006724575.2:c.246C>T, XM_006724575.1:c.246C>G, XM_006724575.1:c.246C>T, XM_017029250.3:c.231C>G, XM_017029250.3:c.231C>T, XM_017029250.2:c.231C>G, XM_017029250.2:c.231C>T, XM_017029250.1:c.231C>G, XM_017029250.1:c.231C>T, XM_024452332.2:c.246C>G, XM_024452332.2:c.246C>T, XM_024452332.1:c.246C>G, XM_024452332.1:c.246C>T, XM_047441795.1:c.246C>G, XM_047441795.1:c.246C>T, XM_047441799.1:c.246C>G, XM_047441799.1:c.246C>T, XM_047441797.1:c.246C>G, XM_047441797.1:c.246C>T, XM_047441796.1:c.246C>G, XM_047441796.1:c.246C>T, XM_047441798.1:c.246C>G, XM_047441798.1:c.246C>T, XM_047441800.1:c.231C>G, XM_047441800.1:c.231C>T

Select item 143377164614.

rs1433771646 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:56265548 (GRCh38)
X:56291981 (GRCh37)
Canonical SPDI:: NC_000023.11:56265547:C:A
Gene:: KLF8 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.56265548C>A, NC_000023.10:g.56291981C>A, NG_011949.2:g.362426C>A, NM_007250.5:c.450C>A, NM_007250.4:c.450C>A, NM_001159296.2:c.450C>A, NM_001159296.1:c.450C>A, NR_136705.1:n.1429C>A, NM_001324105.1:c.441C>A, NM_001324102.1:c.450C>A, NM_001324104.1:c.465C>A, NR_136704.1:n.627C>A, NM_001324099.1:c.435C>A, NM_001324100.1:c.450C>A, XM_006724575.3:c.450C>A, XM_006724575.2:c.450C>A, XM_006724575.1:c.450C>A, XM_017029250.3:c.435C>A, XM_017029250.2:c.435C>A, XM_017029250.1:c.435C>A, XM_024452332.2:c.450C>A, XM_024452332.1:c.450C>A, XM_047441795.1:c.450C>A, XM_047441799.1:c.450C>A, XM_047441797.1:c.450C>A, XM_047441796.1:c.450C>A, XM_047441798.1:c.450C>A, XM_047441800.1:c.435C>A, NP_009181.2:p.Ser150Arg, NP_001152768.1:p.Ser150Arg, NP_001311034.1:p.Ser147Arg, NP_001311031.1:p.Ser150Arg, NP_001311033.1:p.Ser155Arg, NP_001311028.1:p.Ser145Arg, NP_001311029.1:p.Ser150Arg, XP_006724638.1:p.Ser150Arg, XP_016884739.1:p.Ser145Arg, XP_024308100.1:p.Ser150Arg, XP_047297751.1:p.Ser150Arg, XP_047297755.1:p.Ser150Arg, XP_047297753.1:p.Ser150Arg, XP_047297752.1:p.Ser150Arg, XP_047297754.1:p.Ser150Arg, XP_047297756.1:p.Ser145Arg

Select item 143352505315.

rs1433525053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:56270189 (GRCh38)
X:56296622 (GRCh37)
Canonical SPDI:: NC_000023.11:56270188:G:A
Gene:: KLF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.56270189G>A, NC_000023.10:g.56296622G>A, NG_011949.2:g.367067G>A, NM_007250.5:c.766G>A, NM_007250.4:c.766G>A, NR_136705.1:n.5378G>A, NM_001324105.1:c.757G>A, NM_001324102.1:c.766G>A, NM_001324104.1:c.781G>A, NR_136704.1:n.1022G>A, XM_017029250.3:c.751G>A, XM_017029250.2:c.751G>A, XM_017029250.1:c.751G>A, XM_047441795.1:c.766G>A, XM_047441799.1:c.766G>A, XM_047441797.1:c.766G>A, XM_047441796.1:c.766G>A, XM_047441798.1:c.766G>A, XM_047441800.1:c.751G>A, NP_009181.2:p.Ala256Thr, NP_001311034.1:p.Ala253Thr, NP_001311031.1:p.Ala256Thr, NP_001311033.1:p.Ala261Thr, XP_016884739.1:p.Ala251Thr, XP_047297751.1:p.Ala256Thr, XP_047297755.1:p.Ala256Thr, XP_047297753.1:p.Ala256Thr, XP_047297752.1:p.Ala256Thr, XP_047297754.1:p.Ala256Thr, XP_047297756.1:p.Ala251Thr

Select item 142775951416.

rs1427759514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:56265414 (GRCh38)
X:56291847 (GRCh37)
Canonical SPDI:: NC_000023.11:56265413:G:T
Gene:: KLF8 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.56265414G>T, NC_000023.10:g.56291847G>T, NG_011949.2:g.362292G>T, NM_007250.5:c.316G>T, NM_007250.4:c.316G>T, NM_001159296.2:c.316G>T, NM_001159296.1:c.316G>T, NR_136705.1:n.1295G>T, NM_001324105.1:c.307G>T, NM_001324102.1:c.316G>T, NM_001324104.1:c.331G>T, NR_136704.1:n.493G>T, NM_001324099.1:c.301G>T, NM_001324100.1:c.316G>T, XM_006724575.3:c.316G>T, XM_006724575.2:c.316G>T, XM_006724575.1:c.316G>T, XM_017029250.3:c.301G>T, XM_017029250.2:c.301G>T, XM_017029250.1:c.301G>T, XM_024452332.2:c.316G>T, XM_024452332.1:c.316G>T, XM_047441795.1:c.316G>T, XM_047441799.1:c.316G>T, XM_047441797.1:c.316G>T, XM_047441796.1:c.316G>T, XM_047441798.1:c.316G>T, XM_047441800.1:c.301G>T, NP_009181.2:p.Ala106Ser, NP_001152768.1:p.Ala106Ser, NP_001311034.1:p.Ala103Ser, NP_001311031.1:p.Ala106Ser, NP_001311033.1:p.Ala111Ser, NP_001311028.1:p.Ala101Ser, NP_001311029.1:p.Ala106Ser, XP_006724638.1:p.Ala106Ser, XP_016884739.1:p.Ala101Ser, XP_024308100.1:p.Ala106Ser, XP_047297751.1:p.Ala106Ser, XP_047297755.1:p.Ala106Ser, XP_047297753.1:p.Ala106Ser, XP_047297752.1:p.Ala106Ser, XP_047297754.1:p.Ala106Ser, XP_047297756.1:p.Ala101Ser

Select item 141868243717.

rs1418682437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:56284404 (GRCh38)
X:56310837 (GRCh37)
Canonical SPDI:: NC_000023.11:56284403:C:A
Gene:: KLF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.56284404C>A, NC_000023.10:g.56310837C>A, NG_011949.2:g.381282C>A, NM_007250.5:c.990C>A, NM_007250.4:c.990C>A, NM_001159296.2:c.*76C>A, NM_001159296.1:c.*76C>A, NR_136705.1:n.5602C>A, NM_001324105.1:c.981C>A, NM_001324102.1:c.990C>A, NM_001324104.1:c.1005C>A, NR_136704.1:n.1246C>A, NM_001324099.1:c.*76C>A, NM_001324100.1:c.738C>A, XM_006724575.3:c.*76C>A, XM_006724575.2:c.*76C>A, XM_006724575.1:c.*76C>A, XM_017029250.3:c.975C>A, XM_017029250.2:c.975C>A, XM_017029250.1:c.975C>A, XM_047441795.1:c.990C>A, XM_047441799.1:c.990C>A, XM_047441797.1:c.990C>A, XM_047441796.1:c.990C>A, XM_047441798.1:c.990C>A, XM_047441800.1:c.975C>A

Select item 141850482218.

rs1418504822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56265699 (GRCh38)
X:56292132 (GRCh37)
Canonical SPDI:: NC_000023.11:56265698:A:G
Gene:: KLF8 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56265699A>G, NC_000023.10:g.56292132A>G, NG_011949.2:g.362577A>G, NM_007250.5:c.601A>G, NM_007250.4:c.601A>G, NM_001159296.2:c.601A>G, NM_001159296.1:c.601A>G, NR_136705.1:n.1580A>G, NM_001324105.1:c.592A>G, NM_001324102.1:c.601A>G, NM_001324104.1:c.616A>G, NR_136704.1:n.778A>G, NM_001324099.1:c.586A>G, NM_001324100.1:c.601A>G, XM_006724575.3:c.601A>G, XM_006724575.2:c.601A>G, XM_006724575.1:c.601A>G, XM_017029250.3:c.586A>G, XM_017029250.2:c.586A>G, XM_017029250.1:c.586A>G, XM_024452332.2:c.601A>G, XM_024452332.1:c.601A>G, XM_047441795.1:c.601A>G, XM_047441799.1:c.601A>G, XM_047441797.1:c.601A>G, XM_047441796.1:c.601A>G, XM_047441798.1:c.601A>G, XM_047441800.1:c.586A>G, NP_009181.2:p.Ile201Val, NP_001152768.1:p.Ile201Val, NP_001311034.1:p.Ile198Val, NP_001311031.1:p.Ile201Val, NP_001311033.1:p.Ile206Val, NP_001311028.1:p.Ile196Val, NP_001311029.1:p.Ile201Val, XP_006724638.1:p.Ile201Val, XP_016884739.1:p.Ile196Val, XP_024308100.1:p.Ile201Val, XP_047297751.1:p.Ile201Val, XP_047297755.1:p.Ile201Val, XP_047297753.1:p.Ile201Val, XP_047297752.1:p.Ile201Val, XP_047297754.1:p.Ile201Val, XP_047297756.1:p.Ile196Val

Select item 141788604619.

rs1417886046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:56265252 (GRCh38)
X:56291685 (GRCh37)
Canonical SPDI:: NC_000023.11:56265251:C:T
Gene:: KLF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.56265252C>T, NC_000023.10:g.56291685C>T, NG_011949.2:g.362130C>T, NM_007250.5:c.154C>T, NM_007250.4:c.154C>T, NM_001159296.2:c.154C>T, NM_001159296.1:c.154C>T, NR_136705.1:n.1133C>T, NM_001324105.1:c.145C>T, NM_001324102.1:c.154C>T, NM_001324104.1:c.169C>T, NR_136704.1:n.331C>T, NM_001324099.1:c.139C>T, NM_001324100.1:c.154C>T, XM_006724575.3:c.154C>T, XM_006724575.2:c.154C>T, XM_006724575.1:c.154C>T, XM_017029250.3:c.139C>T, XM_017029250.2:c.139C>T, XM_017029250.1:c.139C>T, XM_024452332.2:c.154C>T, XM_024452332.1:c.154C>T, XM_047441795.1:c.154C>T, XM_047441799.1:c.154C>T, XM_047441797.1:c.154C>T, XM_047441796.1:c.154C>T, XM_047441798.1:c.154C>T, XM_047441800.1:c.139C>T

Select item 141763323520.

rs1417633235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:56265223 (GRCh38)
X:56291656 (GRCh37)
Canonical SPDI:: NC_000023.11:56265222:A:G
Gene:: KLF8 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.56265223A>G, NC_000023.10:g.56291656A>G, NG_011949.2:g.362101A>G, NM_007250.5:c.125A>G, NM_007250.4:c.125A>G, NM_001159296.2:c.125A>G, NM_001159296.1:c.125A>G, NR_136705.1:n.1104A>G, NM_001324105.1:c.116A>G, NM_001324102.1:c.125A>G, NM_001324104.1:c.140A>G, NR_136704.1:n.302A>G, NM_001324099.1:c.110A>G, NM_001324100.1:c.125A>G, XM_006724575.3:c.125A>G, XM_006724575.2:c.125A>G, XM_006724575.1:c.125A>G, XM_017029250.3:c.110A>G, XM_017029250.2:c.110A>G, XM_017029250.1:c.110A>G, XM_024452332.2:c.125A>G, XM_024452332.1:c.125A>G, XM_047441795.1:c.125A>G, XM_047441799.1:c.125A>G, XM_047441797.1:c.125A>G, XM_047441796.1:c.125A>G, XM_047441798.1:c.125A>G, XM_047441800.1:c.110A>G, NP_009181.2:p.Tyr42Cys, NP_001152768.1:p.Tyr42Cys, NP_001311034.1:p.Tyr39Cys, NP_001311031.1:p.Tyr42Cys, NP_001311033.1:p.Tyr47Cys, NP_001311028.1:p.Tyr37Cys, NP_001311029.1:p.Tyr42Cys, XP_006724638.1:p.Tyr42Cys, XP_016884739.1:p.Tyr37Cys, XP_024308100.1:p.Tyr42Cys, XP_047297751.1:p.Tyr42Cys, XP_047297755.1:p.Tyr42Cys, XP_047297753.1:p.Tyr42Cys, XP_047297752.1:p.Tyr42Cys, XP_047297754.1:p.Tyr42Cys, XP_047297756.1:p.Tyr37Cys

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