Canonical Allele Identifier: CA10619022
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 349349
ClinVar RCV Id: RCV000272626 RCV000383357 RCV003126706
dbSNP Id: rs886059536
gnomAD v2: 4-6304701-C-T
gnomAD v3: 4-6302974-C-T
gnomAD v4: 4-6302974-C-T
MyVariant Identifiers: chr4:g.6304701C>T (hg19) chr4:g.6302974C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302974C>T , CM000666.2:g.6302974C>T GRCh38
NC_000004.11:g.6304701C>T , CM000666.1:g.6304701C>T GRCh37
NC_000004.10:g.6355602C>T NCBI36
NG_011700.1:g.38125C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*506C>T ENSP00000507852.1:n.*506C>T
ENST00000683395.1:c.3156C>T
ENST00000684087.1:c.*506C>T ENSP00000506978.1:n.*506C>T
ENST00000673991.1:c.*506C>T ENSP00000501033.1:n.*506C>T
ENST00000226760.5:c.*506C>T MANE Select ENSP00000226760.1:n.*506C>T
ENST00000507765.1:n.3364C>T
NM_001145853.1:c.*506C>T NP_001139325.1:n.*506C>T
NM_006005.3:c.*506C>T MANE Select NP_005996.2:n.*506C>T
XM_017008586.1:c.*506C>T XP_016864075.1:n.*506C>T
XR_001741566.2:n.1971G>A
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