Canonical Allele Identifier: CA549707965
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1467755600
gnomAD v2: 4-6292873-C-T
gnomAD v3: 4-6291146-C-T
gnomAD v4: 4-6291146-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291146C>T , CM000666.2:g.6291146C>T GRCh38
NC_000004.11:g.6292873C>T , CM000666.1:g.6292873C>T GRCh37
NC_000004.10:g.6343774C>T NCBI36
NG_011700.1:g.26297C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.461-51C>T ENSP00000507852.1:n.461-51C>T
ENST00000683395.1:c.451-51C>T
ENST00000684087.1:c.461-51C>T ENSP00000506978.1:n.461-51C>T
ENST00000684700.1:c.461-51C>T ENSP00000507806.1:n.461-51C>T
ENST00000506362.2:c.212-51C>T ENSP00000424103.2:n.212-51C>T
ENST00000673642.1:c.260-51C>T ENSP00000501242.1:n.260-51C>T
ENST00000673991.1:c.461-51C>T ENSP00000501033.1:n.461-51C>T
ENST00000674051.1:c.335-51C>T ENSP00000501083.1:n.335-51C>T
ENST00000226760.5:c.461-51C>T MANE Select ENSP00000226760.1:n.461-51C>T
ENST00000503569.5:c.461-51C>T ENSP00000423337.1:n.461-51C>T
ENST00000506362.1:c.58-51C>T
ENST00000507765.1:n.646-51C>T
NM_001145853.1:c.461-51C>T NP_001139325.1:n.461-51C>T
NM_006005.3:c.461-51C>T MANE Select NP_005996.2:n.461-51C>T
XM_017008586.1:c.470-51C>T XP_016864075.1:n.470-51C>T