Canonical Allele Identifier: CA549423114
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1309523166
gnomAD v2: 4-6292747-G-A
gnomAD v3: 4-6291020-G-A
gnomAD v4: 4-6291020-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291020G>A , CM000666.2:g.6291020G>A GRCh38
NC_000004.11:g.6292747G>A , CM000666.1:g.6292747G>A GRCh37
NC_000004.10:g.6343648G>A NCBI36
NG_011700.1:g.26171G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682275.1:c.461-177G>A ENSP00000507852.1:n.461-177G>A
ENST00000683395.1:c.451-177G>A
ENST00000684087.1:c.461-177G>A ENSP00000506978.1:n.461-177G>A
ENST00000684700.1:c.461-177G>A ENSP00000507806.1:n.461-177G>A
ENST00000506362.2:c.212-177G>A ENSP00000424103.2:n.212-177G>A
ENST00000673642.1:c.260-177G>A ENSP00000501242.1:n.260-177G>A
ENST00000673991.1:c.461-177G>A ENSP00000501033.1:n.461-177G>A
ENST00000674051.1:c.335-177G>A ENSP00000501083.1:n.335-177G>A
ENST00000226760.5:c.461-177G>A MANE Select ENSP00000226760.1:n.461-177G>A
ENST00000503569.5:c.461-177G>A ENSP00000423337.1:n.461-177G>A
ENST00000506362.1:c.58-177G>A
ENST00000507765.1:n.646-177G>A
NM_001145853.1:c.461-177G>A NP_001139325.1:n.461-177G>A
NM_006005.3:c.461-177G>A MANE Select NP_005996.2:n.461-177G>A
XM_017008586.1:c.470-177G>A XP_016864075.1:n.470-177G>A