Canonical Allele Identifier: CA356174774
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301166G>C , CM000666.2:g.6301166G>C GRCh38
NC_000004.11:g.6302893G>C , CM000666.1:g.6302893G>C GRCh37
NC_000004.10:g.6353794G>C NCBI36
NG_011700.1:g.36317G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1407G>C ENSP00000507852.1:p.Arg469Ser
ENST00000683395.1:c.1348G>C
ENST00000684087.1:c.1371G>C ENSP00000506978.1:p.Arg457Ser
ENST00000506362.2:c.1122G>C ENSP00000424103.2:p.Arg374Ser
ENST00000673642.1:c.1030G>C ENSP00000501242.1:p.Gly344Arg
ENST00000673991.1:c.1407G>C ENSP00000501033.1:p.Arg469Ser
ENST00000226760.5:c.1371G>C MANE Select ENSP00000226760.1:p.Arg457Ser
ENST00000503569.5:c.1371G>C ENSP00000423337.1:p.Arg457Ser
ENST00000507765.1:n.1556G>C
NM_001145853.1:c.1371G>C NP_001139325.1:p.Arg457Ser
NM_006005.3:c.1371G>C MANE Select NP_005996.2:p.Arg457Ser
XM_017008586.1:c.1380G>C XP_016864075.1:p.Arg460Ser