SNP Links for Protein (Select 5729769) - SNP

Links from Protein

Items: 1 to 20 of 955

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Select item 14905682121.

rs1490568212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:86430931 (GRCh38)
1:86896614 (GRCh37)
Canonical SPDI:: NC_000001.11:86430930:C:A
Gene:: CLCA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.86430931C>A, NC_000001.10:g.86896614C>A, NM_006536.7:c.545C>A, NM_006536.6:c.545C>A, NM_006536.5:c.545C>A, XM_011542448.4:c.545C>A, XM_011542448.3:c.545C>A, XM_011542448.2:c.545C>A, XM_011542448.1:c.545C>A, NP_006527.1:p.Pro182His, XP_011540750.1:p.Pro182His

Select item 14866071362.

rs1486607136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:86453493 (GRCh38)
1:86919176 (GRCh37)
Canonical SPDI:: NC_000001.11:86453492:C:T
Gene:: CLCA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.86453493C>T, NC_000001.10:g.86919176C>T, NM_006536.7:c.2280C>T, NM_006536.6:c.2280C>T, NM_006536.5:c.2280C>T

Select item 14856285953.

rs1485628595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:86450626 (GRCh38)
1:86916309 (GRCh37)
Canonical SPDI:: NC_000001.11:86450625:G:A
Gene:: CLCA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.86450626G>A, NC_000001.10:g.86916309G>A, NM_006536.7:c.2048G>A, NM_006536.6:c.2048G>A, NM_006536.5:c.2048G>A, NP_006527.1:p.Gly683Asp

Select item 14844988624.

rs1484498862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:86438881 (GRCh38)
1:86904564 (GRCh37)
Canonical SPDI:: NC_000001.11:86438880:C:A
Gene:: CLCA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.86438881C>A, NC_000001.10:g.86904564C>A, NM_006536.7:c.978C>A, NM_006536.6:c.978C>A, NM_006536.5:c.978C>A, XM_011542448.4:c.978C>A, XM_011542448.3:c.978C>A, XM_011542448.2:c.978C>A, XM_011542448.1:c.978C>A, NP_006527.1:p.Asp326Glu, XP_011540750.1:p.Asp326Glu

Select item 14835733235.

rs1483573323 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 1:86425443 (GRCh38)
1:86891126 (GRCh37)
Canonical SPDI:: NC_000001.11:86425436:TAATAATAA:TAATAA
Gene:: CLCA2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
HGVS:: NC_000001.11:g.86425437TAA[2], NC_000001.10:g.86891120TAA[2], NM_006536.7:c.285TAA[2], NM_006536.6:c.285TAA[2], NM_006536.5:c.285TAA[2], XM_011542448.4:c.285TAA[2], XM_011542448.3:c.285TAA[2], XM_011542448.2:c.285TAA[2], XM_011542448.1:c.285TAA[2], NP_006527.1:p.Asn98del, XP_011540750.1:p.Asn98del

Select item 14833325736.

rs1483332573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:86447616 (GRCh38)
1:86913299 (GRCh37)
Canonical SPDI:: NC_000001.11:86447615:G:T
Gene:: CLCA2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.86447616G>T, NC_000001.10:g.86913299G>T, NM_006536.7:c.1822G>T, NM_006536.6:c.1822G>T, NM_006536.5:c.1822G>T, NP_006527.1:p.Glu608Ter

Select item 14830177367.

rs1483017736 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 1:86455320 (GRCh38)
1:86921004 (GRCh37)
Canonical SPDI:: NC_000001.11:86455320:TCT:TCTCT
Gene:: CLCA2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCT=0./0 (ALFA)
TC=0.000008/2 (TOPMED)
TC=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.86455322_86455323dup, NC_000001.10:g.86921005_86921006dup, NM_006536.7:c.2627_2628dup, NM_006536.6:c.2627_2628dup, NM_006536.5:c.2627_2628dup, NP_006527.1:p.Ala877fs

Select item 14807327748.

rs1480732774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:86439044 (GRCh38)
1:86904727 (GRCh37)
Canonical SPDI:: NC_000001.11:86439043:C:T
Gene:: CLCA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.86439044C>T, NC_000001.10:g.86904727C>T, NM_006536.7:c.1141C>T, NM_006536.6:c.1141C>T, NM_006536.5:c.1141C>T, XM_011542448.4:c.1141C>T, XM_011542448.3:c.1141C>T, XM_011542448.2:c.1141C>T, XM_011542448.1:c.1141C>T, NP_006527.1:p.Pro381Ser, XP_011540750.1:p.Pro381Ser

Select item 14795428329.

rs1479542832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:86425435 (GRCh38)
1:86891118 (GRCh37)
Canonical SPDI:: NC_000001.11:86425434:G:A
Gene:: CLCA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.86425435G>A, NC_000001.10:g.86891118G>A, NM_006536.7:c.283G>A, NM_006536.6:c.283G>A, NM_006536.5:c.283G>A, XM_011542448.4:c.283G>A, XM_011542448.3:c.283G>A, XM_011542448.2:c.283G>A, XM_011542448.1:c.283G>A, NP_006527.1:p.Ala95Thr, XP_011540750.1:p.Ala95Thr

Select item 147944863210.

rs1479448632 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:86430940 (GRCh38)
1:86896623 (GRCh37)
Canonical SPDI:: NC_000001.11:86430939:T:A
Gene:: CLCA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.86430940T>A, NC_000001.10:g.86896623T>A, NM_006536.7:c.554T>A, NM_006536.6:c.554T>A, NM_006536.5:c.554T>A, XM_011542448.4:c.554T>A, XM_011542448.3:c.554T>A, XM_011542448.2:c.554T>A, XM_011542448.1:c.554T>A, NP_006527.1:p.Ile185Lys, XP_011540750.1:p.Ile185Lys

Select item 147929443111.

rs1479294431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:86424366 (GRCh38)
1:86890049 (GRCh37)
Canonical SPDI:: NC_000001.11:86424365:A:G
Gene:: CLCA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.86424366A>G, NC_000001.10:g.86890049A>G, NM_006536.7:c.119A>G, NM_006536.6:c.119A>G, NM_006536.5:c.119A>G, XM_011542448.4:c.119A>G, XM_011542448.3:c.119A>G, XM_011542448.2:c.119A>G, XM_011542448.1:c.119A>G, NP_006527.1:p.Tyr40Cys, XP_011540750.1:p.Tyr40Cys

Select item 147901220912.

rs1479012209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:86443991 (GRCh38)
1:86909674 (GRCh37)
Canonical SPDI:: NC_000001.11:86443990:T:C
Gene:: CLCA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.86443991T>C, NC_000001.10:g.86909674T>C, NM_006536.7:c.1693T>C, NM_006536.6:c.1693T>C, NM_006536.5:c.1693T>C, XM_011542448.4:c.1693T>C, XM_011542448.3:c.1693T>C, XM_011542448.2:c.1693T>C, XM_011542448.1:c.1693T>C, NP_006527.1:p.Trp565Arg, XP_011540750.1:p.Trp565Arg

Select item 147684504313.

rs1476845043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:86441481 (GRCh38)
1:86907164 (GRCh37)
Canonical SPDI:: NC_000001.11:86441480:A:C
Gene:: CLCA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.86441481A>C, NC_000001.10:g.86907164A>C, NM_006536.7:c.1426A>C, NM_006536.6:c.1426A>C, NM_006536.5:c.1426A>C, XM_011542448.4:c.1426A>C, XM_011542448.3:c.1426A>C, XM_011542448.2:c.1426A>C, XM_011542448.1:c.1426A>C, NP_006527.1:p.Met476Leu, XP_011540750.1:p.Met476Leu

Select item 147658870014.

rs1476588700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:86455511 (GRCh38)
1:86921194 (GRCh37)
Canonical SPDI:: NC_000001.11:86455510:G:A,NC_000001.11:86455510:G:C
Gene:: CLCA2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.86455511G>A, NC_000001.11:g.86455511G>C, NC_000001.10:g.86921194G>A, NC_000001.10:g.86921194G>C, NM_006536.7:c.2816G>A, NM_006536.7:c.2816G>C, NM_006536.6:c.2816G>A, NM_006536.6:c.2816G>C, NM_006536.5:c.2816G>A, NM_006536.5:c.2816G>C, NP_006527.1:p.Gly939Glu, NP_006527.1:p.Gly939Ala

Select item 147451720515.

rs1474517205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:86439053 (GRCh38)
1:86904736 (GRCh37)
Canonical SPDI:: NC_000001.11:86439052:G:A,NC_000001.11:86439052:G:C
Gene:: CLCA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.86439053G>A, NC_000001.11:g.86439053G>C, NC_000001.10:g.86904736G>A, NC_000001.10:g.86904736G>C, NM_006536.7:c.1150G>A, NM_006536.7:c.1150G>C, NM_006536.6:c.1150G>A, NM_006536.6:c.1150G>C, NM_006536.5:c.1150G>A, NM_006536.5:c.1150G>C, XM_011542448.4:c.1150G>A, XM_011542448.4:c.1150G>C, XM_011542448.3:c.1150G>A, XM_011542448.3:c.1150G>C, XM_011542448.2:c.1150G>A, XM_011542448.2:c.1150G>C, XM_011542448.1:c.1150G>A, XM_011542448.1:c.1150G>C, NP_006527.1:p.Val384Ile, NP_006527.1:p.Val384Leu, XP_011540750.1:p.Val384Ile, XP_011540750.1:p.Val384Leu

Select item 147398443316.

rs1473984433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:86438943 (GRCh38)
1:86904626 (GRCh37)
Canonical SPDI:: NC_000001.11:86438942:C:T
Gene:: CLCA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.86438943C>T, NC_000001.10:g.86904626C>T, NM_006536.7:c.1040C>T, NM_006536.6:c.1040C>T, NM_006536.5:c.1040C>T, XM_011542448.4:c.1040C>T, XM_011542448.3:c.1040C>T, XM_011542448.2:c.1040C>T, XM_011542448.1:c.1040C>T, NP_006527.1:p.Thr347Ile, XP_011540750.1:p.Thr347Ile

Select item 147374366417.

rs1473743664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:86447563 (GRCh38)
1:86913246 (GRCh37)
Canonical SPDI:: NC_000001.11:86447562:A:G
Gene:: CLCA2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.86447563A>G, NC_000001.10:g.86913246A>G, NM_006536.7:c.1769A>G, NM_006536.6:c.1769A>G, NM_006536.5:c.1769A>G, NP_006527.1:p.Lys590Arg

Select item 147359520318.

rs1473595203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:86447763 (GRCh38)
1:86913446 (GRCh37)
Canonical SPDI:: NC_000001.11:86447762:C:T
Gene:: CLCA2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.86447763C>T, NC_000001.10:g.86913446C>T, NM_006536.7:c.1969C>T, NM_006536.6:c.1969C>T, NM_006536.5:c.1969C>T, NP_006527.1:p.Leu657Phe

Select item 147332030519.

rs1473320305 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:86439039 (GRCh38)
1:86904722 (GRCh37)
Canonical SPDI:: NC_000001.11:86439038:A:G
Gene:: CLCA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.86439039A>G, NC_000001.10:g.86904722A>G, NM_006536.7:c.1136A>G, NM_006536.6:c.1136A>G, NM_006536.5:c.1136A>G, XM_011542448.4:c.1136A>G, XM_011542448.3:c.1136A>G, XM_011542448.2:c.1136A>G, XM_011542448.1:c.1136A>G, NP_006527.1:p.Tyr379Cys, XP_011540750.1:p.Tyr379Cys

Select item 147032073920.

rs1470320739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:86453508 (GRCh38)
1:86919191 (GRCh37)
Canonical SPDI:: NC_000001.11:86453507:A:C,NC_000001.11:86453507:A:T
Gene:: CLCA2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.86453508A>C, NC_000001.11:g.86453508A>T, NC_000001.10:g.86919191A>C, NC_000001.10:g.86919191A>T, NM_006536.7:c.2295A>C, NM_006536.7:c.2295A>T, NM_006536.6:c.2295A>C, NM_006536.6:c.2295A>T, NM_006536.5:c.2295A>C, NM_006536.5:c.2295A>T

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