Canonical Allele Identifier: CA356174229
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300884G>T , CM000666.2:g.6300884G>T GRCh38
NC_000004.11:g.6302611G>T , CM000666.1:g.6302611G>T GRCh37
NC_000004.10:g.6353512G>T NCBI36
NG_011700.1:g.36035G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1125G>T ENSP00000507852.1:p.Lys375Asn
ENST00000683395.1:c.1066G>T
ENST00000684087.1:c.1089G>T ENSP00000506978.1:p.Lys363Asn
ENST00000506362.2:c.840G>T ENSP00000424103.2:p.Lys280Asn
ENST00000673642.1:c.748G>T ENSP00000501242.1:p.Gly250Cys
ENST00000673991.1:c.1125G>T ENSP00000501033.1:p.Lys375Asn
ENST00000226760.5:c.1089G>T MANE Select ENSP00000226760.1:p.Lys363Asn
ENST00000503569.5:c.1089G>T ENSP00000423337.1:p.Lys363Asn
ENST00000506362.1:c.722G>T
ENST00000507765.1:n.1274G>T
NM_001145853.1:c.1089G>T NP_001139325.1:p.Lys363Asn
NM_006005.3:c.1089G>T MANE Select NP_005996.2:p.Lys363Asn
XM_017008586.1:c.1098G>T XP_016864075.1:p.Lys366Asn