Canonical Allele Identifier: CA2839661
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 228236
dbSNP Id: rs369498603
gnomAD v2: 4-6303772-C-T
gnomAD v3: 4-6302045-C-T
gnomAD v4: 4-6302045-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302045C>T , CM000666.2:g.6302045C>T GRCh38
NC_000004.11:g.6303772C>T , CM000666.1:g.6303772C>T GRCh37
NC_000004.10:g.6354673C>T NCBI36
NG_011700.1:g.37196C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.2286C>T ENSP00000507852.1:p.Ala762=
ENST00000683395.1:c.2227C>T
ENST00000684087.1:c.2250C>T ENSP00000506978.1:p.Ala750=
ENST00000506362.2:c.2001C>T ENSP00000424103.2:p.Ala667=
ENST00000673642.1:c.1909C>T ENSP00000501242.1:n.1909C>T
ENST00000673991.1:c.2286C>T ENSP00000501033.1:p.Ala762=
ENST00000226760.5:c.2250C>T MANE Select ENSP00000226760.1:p.Ala750=
ENST00000503569.5:c.2250C>T ENSP00000423337.1:p.Ala750=
ENST00000507765.1:n.2435C>T
NM_001145853.1:c.2250C>T NP_001139325.1:p.Ala750=
NM_006005.3:c.2250C>T MANE Select NP_005996.2:p.Ala750=
XM_017008586.1:c.2259C>T XP_016864075.1:p.Ala753=