Canonical Allele Identifier: CA10618112
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 349337
dbSNP Id: rs1046320
gnomAD v2: 4-6304344-G-A
gnomAD v3: 4-6302617-G-A
gnomAD v4: 4-6302617-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302617G>A , CM000666.2:g.6302617G>A GRCh38
NC_000004.11:g.6304344G>A , CM000666.1:g.6304344G>A GRCh37
NC_000004.10:g.6355245G>A NCBI36
NG_011700.1:g.37768G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.*149G>A ENSP00000507852.1:n.*149G>A
ENST00000683395.1:c.2799G>A
ENST00000684087.1:c.*149G>A ENSP00000506978.1:n.*149G>A
ENST00000506362.2:c.*149G>A ENSP00000424103.2:n.*149G>A
ENST00000673991.1:c.*149G>A ENSP00000501033.1:n.*149G>A
ENST00000226760.5:c.*149G>A MANE Select ENSP00000226760.1:n.*149G>A
ENST00000503569.5:c.*149G>A ENSP00000423337.1:n.*149G>A
ENST00000507765.1:n.3007G>A
NM_001145853.1:c.*149G>A NP_001139325.1:n.*149G>A
NM_006005.3:c.*149G>A MANE Select NP_005996.2:n.*149G>A
XM_017008586.1:c.*149G>A XP_016864075.1:n.*149G>A