Canonical Allele Identifier: CA10618100
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 349297
ClinVar RCV Id: RCV000311162 RCV000368062 RCV002465629
dbSNP Id: rs886059522
gnomAD v2: 4-6271618-A-G
gnomAD v3: 4-6269891-A-G
gnomAD v4: 4-6269891-A-G
MyVariant Identifiers: chr4:g.6271618A>G (hg19) chr4:g.6269891A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6269891A>G , CM000666.2:g.6269891A>G GRCh38
NC_000004.11:g.6271618A>G , CM000666.1:g.6271618A>G GRCh37
NC_000004.10:g.6322519A>G NCBI36
NG_011700.1:g.5042A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000506588.6:n.42A>G
ENST00000682275.1:c.-129A>G ENSP00000507852.1:n.-129A>G
ENST00000673991.1:c.-125A>G ENSP00000501033.1:n.-125A>G
ENST00000226760.5:c.-129A>G MANE Select ENSP00000226760.1:n.-129A>G
ENST00000503569.5:c.-125A>G ENSP00000423337.1:n.-125A>G
ENST00000506588.5:n.42A>G
NM_001145853.1:c.-125A>G NP_001139325.1:n.-125A>G
NM_006005.3:c.-129A>G MANE Select NP_005996.2:n.-129A>G
XM_017008586.1:c.5-7560A>G XP_016864075.1:n.5-7560A>G
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