Canonical Allele Identifier: CA253190
Gene: WFS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4512
dbSNP Id: rs28937892
gnomAD v2: 4-6303033-C-T
gnomAD v3: 4-6301306-C-T
gnomAD v4: 4-6301306-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301306C>T , CM000666.2:g.6301306C>T GRCh38
NC_000004.11:g.6303033C>T , CM000666.1:g.6303033C>T GRCh37
NC_000004.10:g.6353934C>T NCBI36
NG_011700.1:g.36457C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1547C>T ENSP00000507852.1:p.Pro516Leu
ENST00000683395.1:c.1488C>T
ENST00000684087.1:c.1511C>T ENSP00000506978.1:p.Pro504Leu
ENST00000506362.2:c.1262C>T ENSP00000424103.2:p.Pro421Leu
ENST00000673642.1:c.1170C>T ENSP00000501242.1:p.Pro390=
ENST00000673991.1:c.1547C>T ENSP00000501033.1:p.Pro516Leu
ENST00000226760.5:c.1511C>T MANE Select ENSP00000226760.1:p.Pro504Leu
ENST00000503569.5:c.1511C>T ENSP00000423337.1:p.Pro504Leu
ENST00000507765.1:n.1696C>T
NM_001145853.1:c.1511C>T NP_001139325.1:p.Pro504Leu
NM_006005.3:c.1511C>T MANE Select NP_005996.2:p.Pro504Leu
XM_017008586.1:c.1520C>T XP_016864075.1:p.Pro507Leu