SNP Links for Protein (Select 10047086) - SNP

Links from Protein

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Select item 14842055651.

rs1484205565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:8015350 (GRCh38)
1:8075410 (GRCh37)
Canonical SPDI:: NC_000001.11:8015349:A:C
Gene:: ERRFI1 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.8015350A>C, NC_000001.10:g.8075410A>C, NM_018948.4:c.160T>G, NM_018948.3:c.160T>G, XM_005263477.4:c.7T>G, XM_005263477.3:c.7T>G, XM_005263477.2:c.7T>G, XM_005263477.1:c.7T>G, XM_047422698.1:c.160T>G, NP_061821.1:p.Tyr54Asp, XP_005263534.1:p.Tyr3Asp, XP_047278654.1:p.Tyr54Asp

Select item 14841214672.

rs1484121467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:8013931 (GRCh38)
1:8073991 (GRCh37)
Canonical SPDI:: NC_000001.11:8013930:C:A,NC_000001.11:8013930:C:G,NC_000001.11:8013930:C:T
Gene:: ERRFI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.8013931C>A, NC_000001.11:g.8013931C>G, NC_000001.11:g.8013931C>T, NC_000001.10:g.8073991C>A, NC_000001.10:g.8073991C>G, NC_000001.10:g.8073991C>T, NM_018948.4:c.668G>T, NM_018948.4:c.668G>C, NM_018948.4:c.668G>A, NM_018948.3:c.668G>T, NM_018948.3:c.668G>C, NM_018948.3:c.668G>A, XM_005263477.4:c.515G>T, XM_005263477.4:c.515G>C, XM_005263477.4:c.515G>A, XM_005263477.3:c.515G>T, XM_005263477.3:c.515G>C, XM_005263477.3:c.515G>A, XM_005263477.2:c.515G>T, XM_005263477.2:c.515G>C, XM_005263477.2:c.515G>A, XM_005263477.1:c.515G>T, XM_005263477.1:c.515G>C, XM_005263477.1:c.515G>A, XM_047422698.1:c.668G>T, XM_047422698.1:c.668G>C, XM_047422698.1:c.668G>A, XM_047422701.1:c.443G>T, XM_047422701.1:c.443G>C, XM_047422701.1:c.443G>A, NP_061821.1:p.Ser223Ile, NP_061821.1:p.Ser223Thr, NP_061821.1:p.Ser223Asn, XP_005263534.1:p.Ser172Ile, XP_005263534.1:p.Ser172Thr, XP_005263534.1:p.Ser172Asn, XP_047278654.1:p.Ser223Ile, XP_047278654.1:p.Ser223Thr, XP_047278654.1:p.Ser223Asn, XP_047278657.1:p.Ser148Ile, XP_047278657.1:p.Ser148Thr, XP_047278657.1:p.Ser148Asn

Select item 14837258333.

rs1483725833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:8013233 (GRCh38)
1:8073293 (GRCh37)
Canonical SPDI:: NC_000001.11:8013232:A:T
Gene:: ERRFI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.8013233A>T, NC_000001.10:g.8073293A>T, NM_018948.4:c.1366T>A, NM_018948.3:c.1366T>A, XM_005263477.4:c.1213T>A, XM_005263477.3:c.1213T>A, XM_005263477.2:c.1213T>A, XM_005263477.1:c.1213T>A, XM_047422698.1:c.1366T>A, XM_047422701.1:c.1141T>A, NP_061821.1:p.Leu456Ile, XP_005263534.1:p.Leu405Ile, XP_047278654.1:p.Leu456Ile, XP_047278657.1:p.Leu381Ile

Select item 14823266534.

rs1482326653 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:8013335 (GRCh38)
1:8073395 (GRCh37)
Canonical SPDI:: NC_000001.11:8013334:G:A,NC_000001.11:8013334:G:T
Gene:: ERRFI1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.8013335G>A, NC_000001.11:g.8013335G>T, NC_000001.10:g.8073395G>A, NC_000001.10:g.8073395G>T, NM_018948.4:c.1264C>T, NM_018948.4:c.1264C>A, NM_018948.3:c.1264C>T, NM_018948.3:c.1264C>A, XM_005263477.4:c.1111C>T, XM_005263477.4:c.1111C>A, XM_005263477.3:c.1111C>T, XM_005263477.3:c.1111C>A, XM_005263477.2:c.1111C>T, XM_005263477.2:c.1111C>A, XM_005263477.1:c.1111C>T, XM_005263477.1:c.1111C>A, XM_047422698.1:c.1264C>T, XM_047422698.1:c.1264C>A, XM_047422701.1:c.1039C>T, XM_047422701.1:c.1039C>A, NP_061821.1:p.Gln422Ter, NP_061821.1:p.Gln422Lys, XP_005263534.1:p.Gln371Ter, XP_005263534.1:p.Gln371Lys, XP_047278654.1:p.Gln422Ter, XP_047278654.1:p.Gln422Lys, XP_047278657.1:p.Gln347Ter, XP_047278657.1:p.Gln347Lys

Select item 14822803375.

rs1482280337 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:8013239 (GRCh38)
1:8073300 (GRCh37)
Canonical SPDI:: NC_000001.11:8013239:A:AA
Gene:: ERRFI1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000001.11:g.8013240dup, NC_000001.10:g.8073300dup, NM_018948.4:c.1359dup, NM_018948.3:c.1359dup, XM_005263477.4:c.1206dup, XM_005263477.3:c.1206dup, XM_005263477.2:c.1206dup, XM_005263477.1:c.1206dup, XM_047422698.1:c.1359dup, XM_047422701.1:c.1134dup, NP_061821.1:p.Lys454Ter, XP_005263534.1:p.Lys403Ter, XP_047278654.1:p.Lys454Ter, XP_047278657.1:p.Lys379Ter

Select item 14818335076.

rs1481833507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:8014352 (GRCh38)
1:8074412 (GRCh37)
Canonical SPDI:: NC_000001.11:8014351:C:T
Gene:: ERRFI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.8014352C>T, NC_000001.10:g.8074412C>T, NM_018948.4:c.247G>A, NM_018948.3:c.247G>A, XM_005263477.4:c.94G>A, XM_005263477.3:c.94G>A, XM_005263477.2:c.94G>A, XM_005263477.1:c.94G>A, XM_047422698.1:c.247G>A, XM_047422701.1:c.22G>A, NP_061821.1:p.Glu83Lys, XP_005263534.1:p.Glu32Lys, XP_047278654.1:p.Glu83Lys, XP_047278657.1:p.Glu8Lys

Select item 14814196187.

rs1481419618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:8014384 (GRCh38)
1:8074444 (GRCh37)
Canonical SPDI:: NC_000001.11:8014383:T:G
Gene:: ERRFI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.8014384T>G, NC_000001.10:g.8074444T>G, NM_018948.4:c.215A>C, NM_018948.3:c.215A>C, XM_005263477.4:c.62A>C, XM_005263477.3:c.62A>C, XM_005263477.2:c.62A>C, XM_005263477.1:c.62A>C, XM_047422698.1:c.215A>C, XM_047422701.1:c.-11A>C, NP_061821.1:p.Lys72Thr, XP_005263534.1:p.Lys21Thr, XP_047278654.1:p.Lys72Thr

Select item 14760328778.

rs1476032877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:8013493 (GRCh38)
1:8073553 (GRCh37)
Canonical SPDI:: NC_000001.11:8013492:C:T
Gene:: ERRFI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.8013493C>T, NC_000001.10:g.8073553C>T, NM_018948.4:c.1106G>A, NM_018948.3:c.1106G>A, XM_005263477.4:c.953G>A, XM_005263477.3:c.953G>A, XM_005263477.2:c.953G>A, XM_005263477.1:c.953G>A, XM_047422698.1:c.1106G>A, XM_047422701.1:c.881G>A, NP_061821.1:p.Ser369Asn, XP_005263534.1:p.Ser318Asn, XP_047278654.1:p.Ser369Asn, XP_047278657.1:p.Ser294Asn

Select item 14752878989.

rs1475287898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:8013282 (GRCh38)
1:8073342 (GRCh37)
Canonical SPDI:: NC_000001.11:8013281:T:G
Gene:: ERRFI1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.8013282T>G, NC_000001.10:g.8073342T>G, NM_018948.4:c.1317A>C, NM_018948.3:c.1317A>C, XM_005263477.4:c.1164A>C, XM_005263477.3:c.1164A>C, XM_005263477.2:c.1164A>C, XM_005263477.1:c.1164A>C, XM_047422698.1:c.1317A>C, XM_047422701.1:c.1092A>C

Select item 147520405110.

rs1475204051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:8014016 (GRCh38)
1:8074076 (GRCh37)
Canonical SPDI:: NC_000001.11:8014015:C:A,NC_000001.11:8014015:C:T
Gene:: ERRFI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
T=0.00034/1 (KOREAN)
HGVS:: NC_000001.11:g.8014016C>A, NC_000001.11:g.8014016C>T, NC_000001.10:g.8074076C>A, NC_000001.10:g.8074076C>T, NM_018948.4:c.583G>T, NM_018948.4:c.583G>A, NM_018948.3:c.583G>T, NM_018948.3:c.583G>A, XM_005263477.4:c.430G>T, XM_005263477.4:c.430G>A, XM_005263477.3:c.430G>T, XM_005263477.3:c.430G>A, XM_005263477.2:c.430G>T, XM_005263477.2:c.430G>A, XM_005263477.1:c.430G>T, XM_005263477.1:c.430G>A, XM_047422698.1:c.583G>T, XM_047422698.1:c.583G>A, XM_047422701.1:c.358G>T, XM_047422701.1:c.358G>A, NP_061821.1:p.Val195Phe, NP_061821.1:p.Val195Ile, XP_005263534.1:p.Val144Phe, XP_005263534.1:p.Val144Ile, XP_047278654.1:p.Val195Phe, XP_047278654.1:p.Val195Ile, XP_047278657.1:p.Val120Phe, XP_047278657.1:p.Val120Ile

Select item 147432824811.

rs1474328248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:8013270 (GRCh38)
1:8073330 (GRCh37)
Canonical SPDI:: NC_000001.11:8013269:T:C
Gene:: ERRFI1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.8013270T>C, NC_000001.10:g.8073330T>C, NM_018948.4:c.1329A>G, NM_018948.3:c.1329A>G, XM_005263477.4:c.1176A>G, XM_005263477.3:c.1176A>G, XM_005263477.2:c.1176A>G, XM_005263477.1:c.1176A>G, XM_047422698.1:c.1329A>G, XM_047422701.1:c.1104A>G

Select item 147203653912.

rs1472036539 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:8013981 (GRCh38)
1:8074041 (GRCh37)
Canonical SPDI:: NC_000001.11:8013980:T:C,NC_000001.11:8013980:T:G
Gene:: ERRFI1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.8013981T>C, NC_000001.11:g.8013981T>G, NC_000001.10:g.8074041T>C, NC_000001.10:g.8074041T>G, NM_018948.4:c.618A>G, NM_018948.4:c.618A>C, NM_018948.3:c.618A>G, NM_018948.3:c.618A>C, XM_005263477.4:c.465A>G, XM_005263477.4:c.465A>C, XM_005263477.3:c.465A>G, XM_005263477.3:c.465A>C, XM_005263477.2:c.465A>G, XM_005263477.2:c.465A>C, XM_005263477.1:c.465A>G, XM_005263477.1:c.465A>C, XM_047422698.1:c.618A>G, XM_047422698.1:c.618A>C, XM_047422701.1:c.393A>G, XM_047422701.1:c.393A>C, NP_061821.1:p.Gln206His, XP_005263534.1:p.Gln155His, XP_047278654.1:p.Gln206His, XP_047278657.1:p.Gln131His

Select item 147135946013.

rs1471359460 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:8015533 (GRCh38)
1:8075593 (GRCh37)
Canonical SPDI:: NC_000001.11:8015532:C:T
Gene:: ERRFI1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.8015533C>T, NC_000001.10:g.8075593C>T, NM_018948.4:c.87G>A, NM_018948.3:c.87G>A, XM_005263477.4:c.-83G>A, XM_005263477.3:c.-83G>A, XM_005263477.2:c.-83G>A, XM_005263477.1:c.-83G>A, XM_047422698.1:c.87G>A, XM_047422701.1:c.-62G>A, NP_061821.1:p.Met29Ile, XP_047278654.1:p.Met29Ile

Select item 147131766814.

rs1471317668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:8013517 (GRCh38)
1:8073577 (GRCh37)
Canonical SPDI:: NC_000001.11:8013516:C:T
Gene:: ERRFI1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.8013517C>T, NC_000001.10:g.8073577C>T, NM_018948.4:c.1082G>A, NM_018948.3:c.1082G>A, XM_005263477.4:c.929G>A, XM_005263477.3:c.929G>A, XM_005263477.2:c.929G>A, XM_005263477.1:c.929G>A, XM_047422698.1:c.1082G>A, XM_047422701.1:c.857G>A, NP_061821.1:p.Ser361Asn, XP_005263534.1:p.Ser310Asn, XP_047278654.1:p.Ser361Asn, XP_047278657.1:p.Ser286Asn

Select item 146619882615.

rs1466198826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:8013484 (GRCh38)
1:8073544 (GRCh37)
Canonical SPDI:: NC_000001.11:8013483:G:A,NC_000001.11:8013483:G:C
Gene:: ERRFI1 (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.8013484G>A, NC_000001.11:g.8013484G>C, NC_000001.10:g.8073544G>A, NC_000001.10:g.8073544G>C, NM_018948.4:c.1115C>T, NM_018948.4:c.1115C>G, NM_018948.3:c.1115C>T, NM_018948.3:c.1115C>G, XM_005263477.4:c.962C>T, XM_005263477.4:c.962C>G, XM_005263477.3:c.962C>T, XM_005263477.3:c.962C>G, XM_005263477.2:c.962C>T, XM_005263477.2:c.962C>G, XM_005263477.1:c.962C>T, XM_005263477.1:c.962C>G, XM_047422698.1:c.1115C>T, XM_047422698.1:c.1115C>G, XM_047422701.1:c.890C>T, XM_047422701.1:c.890C>G, NP_061821.1:p.Ser372Phe, NP_061821.1:p.Ser372Cys, XP_005263534.1:p.Ser321Phe, XP_005263534.1:p.Ser321Cys, XP_047278654.1:p.Ser372Phe, XP_047278654.1:p.Ser372Cys, XP_047278657.1:p.Ser297Phe, XP_047278657.1:p.Ser297Cys

Select item 145949606716.

rs1459496067 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 1:8014049 (GRCh38)
1:8074110 (GRCh37)
Canonical SPDI:: NC_000001.11:8014049:TA:TATA
Gene:: ERRFI1 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: TATA=0./0 (ALFA)
TA=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.8014050_8014051dup, NC_000001.10:g.8074110_8074111dup, NM_018948.4:c.548_549dup, NM_018948.3:c.548_549dup, XM_005263477.4:c.395_396dup, XM_005263477.3:c.395_396dup, XM_005263477.2:c.395_396dup, XM_005263477.1:c.395_396dup, XM_047422698.1:c.548_549dup, XM_047422701.1:c.323_324dup, NP_061821.1:p.Glu184Ter, XP_005263534.1:p.Glu133Ter, XP_047278654.1:p.Glu184Ter, XP_047278657.1:p.Glu109Ter

Select item 145912393817.

rs1459123938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:8013813 (GRCh38)
1:8073873 (GRCh37)
Canonical SPDI:: NC_000001.11:8013812:T:C
Gene:: ERRFI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.8013813T>C, NC_000001.10:g.8073873T>C, NM_018948.4:c.786A>G, NM_018948.3:c.786A>G, XM_005263477.4:c.633A>G, XM_005263477.3:c.633A>G, XM_005263477.2:c.633A>G, XM_005263477.1:c.633A>G, XM_047422698.1:c.786A>G, XM_047422701.1:c.561A>G, NP_061821.1:p.Ile262Met, XP_005263534.1:p.Ile211Met, XP_047278654.1:p.Ile262Met, XP_047278657.1:p.Ile187Met

Select item 145572375018.

rs1455723750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:8014154 (GRCh38)
1:8074214 (GRCh37)
Canonical SPDI:: NC_000001.11:8014153:C:A,NC_000001.11:8014153:C:G,NC_000001.11:8014153:C:T
Gene:: ERRFI1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.8014154C>A, NC_000001.11:g.8014154C>G, NC_000001.11:g.8014154C>T, NC_000001.10:g.8074214C>A, NC_000001.10:g.8074214C>G, NC_000001.10:g.8074214C>T, NM_018948.4:c.445G>T, NM_018948.4:c.445G>C, NM_018948.4:c.445G>A, NM_018948.3:c.445G>T, NM_018948.3:c.445G>C, NM_018948.3:c.445G>A, XM_005263477.4:c.292G>T, XM_005263477.4:c.292G>C, XM_005263477.4:c.292G>A, XM_005263477.3:c.292G>T, XM_005263477.3:c.292G>C, XM_005263477.3:c.292G>A, XM_005263477.2:c.292G>T, XM_005263477.2:c.292G>C, XM_005263477.2:c.292G>A, XM_005263477.1:c.292G>T, XM_005263477.1:c.292G>C, XM_005263477.1:c.292G>A, XM_047422698.1:c.445G>T, XM_047422698.1:c.445G>C, XM_047422698.1:c.445G>A, XM_047422701.1:c.220G>T, XM_047422701.1:c.220G>C, XM_047422701.1:c.220G>A, NP_061821.1:p.Gly149Cys, NP_061821.1:p.Gly149Arg, NP_061821.1:p.Gly149Ser, XP_005263534.1:p.Gly98Cys, XP_005263534.1:p.Gly98Arg, XP_005263534.1:p.Gly98Ser, XP_047278654.1:p.Gly149Cys, XP_047278654.1:p.Gly149Arg, XP_047278654.1:p.Gly149Ser, XP_047278657.1:p.Gly74Cys, XP_047278657.1:p.Gly74Arg, XP_047278657.1:p.Gly74Ser

Select item 145541857119.

rs1455418571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:8014209 (GRCh38)
1:8074269 (GRCh37)
Canonical SPDI:: NC_000001.11:8014208:C:G,NC_000001.11:8014208:C:T
Gene:: ERRFI1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.8014209C>G, NC_000001.11:g.8014209C>T, NC_000001.10:g.8074269C>G, NC_000001.10:g.8074269C>T, NM_018948.4:c.390G>C, NM_018948.4:c.390G>A, NM_018948.3:c.390G>C, NM_018948.3:c.390G>A, XM_005263477.4:c.237G>C, XM_005263477.4:c.237G>A, XM_005263477.3:c.237G>C, XM_005263477.3:c.237G>A, XM_005263477.2:c.237G>C, XM_005263477.2:c.237G>A, XM_005263477.1:c.237G>C, XM_005263477.1:c.237G>A, XM_047422698.1:c.390G>C, XM_047422698.1:c.390G>A, XM_047422701.1:c.165G>C, XM_047422701.1:c.165G>A

Select item 145489784820.

rs1454897848 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:8013860 (GRCh38)
1:8073920 (GRCh37)
Canonical SPDI:: NC_000001.11:8013859:TT:T
Gene:: ERRFI1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.00056/7 (GoESP)
HGVS:: NC_000001.11:g.8013861del, NC_000001.10:g.8073921del, NM_018948.4:c.739del, NM_018948.3:c.739del, XM_005263477.4:c.586del, XM_005263477.3:c.586del, XM_005263477.2:c.586del, XM_005263477.1:c.586del, XM_047422698.1:c.739del, XM_047422701.1:c.514del, NP_061821.1:p.Arg247fs, XP_005263534.1:p.Arg196fs, XP_047278654.1:p.Arg247fs, XP_047278657.1:p.Arg172fs

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