Canonical Allele Identifier: CA356174376
Gene: WFS1 HGNC NCBI

Linked Data

gnomAD v4: 4-6300958-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300958T>G , CM000666.2:g.6300958T>G GRCh38
NC_000004.11:g.6302685T>G , CM000666.1:g.6302685T>G GRCh37
NC_000004.10:g.6353586T>G NCBI36
NG_011700.1:g.36109T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1199T>G ENSP00000507852.1:p.Leu400Arg
ENST00000683395.1:c.1140T>G
ENST00000684087.1:c.1163T>G ENSP00000506978.1:p.Leu388Arg
ENST00000506362.2:c.914T>G ENSP00000424103.2:p.Leu305Arg
ENST00000673642.1:c.822T>G ENSP00000501242.1:p.Pro274=
ENST00000673991.1:c.1199T>G ENSP00000501033.1:p.Leu400Arg
ENST00000226760.5:c.1163T>G MANE Select ENSP00000226760.1:p.Leu388Arg
ENST00000503569.5:c.1163T>G ENSP00000423337.1:p.Leu388Arg
ENST00000507765.1:n.1348T>G
NM_001145853.1:c.1163T>G NP_001139325.1:p.Leu388Arg
NM_006005.3:c.1163T>G MANE Select NP_005996.2:p.Leu388Arg
XM_017008586.1:c.1172T>G XP_016864075.1:p.Leu391Arg