Canonical Allele Identifier: CA2839243
Gene: WFS1 HGNC NCBI

Linked Data

dbSNP Id: rs755387863
gnomAD v2: 4-6302694-A-G
gnomAD v4: 4-6300967-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300967A>G , CM000666.2:g.6300967A>G GRCh38
NC_000004.11:g.6302694A>G , CM000666.1:g.6302694A>G GRCh37
NC_000004.10:g.6353595A>G NCBI36
NG_011700.1:g.36118A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1208A>G ENSP00000507852.1:p.Glu403Gly
ENST00000683395.1:c.1149A>G
ENST00000684087.1:c.1172A>G ENSP00000506978.1:p.Glu391Gly
ENST00000506362.2:c.923A>G ENSP00000424103.2:p.Glu308Gly
ENST00000673642.1:c.831A>G ENSP00000501242.1:p.Gly277=
ENST00000673991.1:c.1208A>G ENSP00000501033.1:p.Glu403Gly
ENST00000226760.5:c.1172A>G MANE Select ENSP00000226760.1:p.Glu391Gly
ENST00000503569.5:c.1172A>G ENSP00000423337.1:p.Glu391Gly
ENST00000507765.1:n.1357A>G
NM_001145853.1:c.1172A>G NP_001139325.1:p.Glu391Gly
NM_006005.3:c.1172A>G MANE Select NP_005996.2:p.Glu391Gly
XM_017008586.1:c.1181A>G XP_016864075.1:p.Glu394Gly