Canonical Allele Identifier: CA356172148
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs1730458577
gnomAD v4: 4-6291350-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291350G>T , CM000666.2:g.6291350G>T GRCh38
NC_000004.11:g.6293077G>T , CM000666.1:g.6293077G>T GRCh37
NC_000004.10:g.6343978G>T NCBI36
NG_011700.1:g.26501G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.614G>T ENSP00000507852.1:p.Gly205Val
ENST00000683395.1:c.604G>T
ENST00000684087.1:c.614G>T ENSP00000506978.1:p.Gly205Val
ENST00000684700.1:c.614G>T ENSP00000507806.1:p.Gly205Val
ENST00000506362.2:c.365G>T ENSP00000424103.2:p.Gly122Val
ENST00000673642.1:c.413G>T ENSP00000501242.1:p.Gly138Val
ENST00000673991.1:c.614G>T ENSP00000501033.1:p.Gly205Val
ENST00000226760.5:c.614G>T MANE Select ENSP00000226760.1:p.Gly205Val
ENST00000503569.5:c.614G>T ENSP00000423337.1:p.Gly205Val
ENST00000506362.1:c.211G>T
ENST00000507765.1:n.799G>T
NM_001145853.1:c.614G>T NP_001139325.1:p.Gly205Val
NM_006005.3:c.614G>T MANE Select NP_005996.2:p.Gly205Val
XM_017008586.1:c.623G>T XP_016864075.1:p.Gly208Val