Canonical Allele Identifier: CA91798255
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs182351379
gnomAD v3: 4-6302800-C-G
gnomAD v4: 4-6302800-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302800C>G , CM000666.2:g.6302800C>G GRCh38
NC_000004.11:g.6304527C>G , CM000666.1:g.6304527C>G GRCh37
NC_000004.10:g.6355428C>G NCBI36
NG_011700.1:g.37951C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*332C>G ENSP00000507852.1:n.*332C>G
ENST00000683395.1:c.2982C>G
ENST00000684087.1:c.*332C>G ENSP00000506978.1:n.*332C>G
ENST00000506362.2:c.*332C>G ENSP00000424103.2:n.*332C>G
ENST00000673991.1:c.*332C>G ENSP00000501033.1:n.*332C>G
ENST00000226760.5:c.*332C>G MANE Select ENSP00000226760.1:n.*332C>G
ENST00000503569.5:c.*332C>G ENSP00000423337.1:n.*332C>G
ENST00000507765.1:n.3190C>G
NM_001145853.1:c.*332C>G NP_001139325.1:n.*332C>G
NM_006005.3:c.*332C>G MANE Select NP_005996.2:n.*332C>G
XM_017008586.1:c.*332C>G XP_016864075.1:n.*332C>G