Canonical Allele Identifier: CA356172274
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291956A>T , CM000666.2:g.6291956A>T GRCh38
NC_000004.11:g.6293683A>T , CM000666.1:g.6293683A>T GRCh37
NC_000004.10:g.6344584A>T NCBI36
NG_011700.1:g.27107A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.671A>T ENSP00000507852.1:p.Gln224Leu
ENST00000683395.1:c.648A>T
ENST00000684087.1:c.671A>T ENSP00000506978.1:p.Gln224Leu
ENST00000506362.2:c.422A>T ENSP00000424103.2:p.Gln141Leu
ENST00000673642.1:c.470A>T ENSP00000501242.1:p.Gln157Leu
ENST00000673991.1:c.671A>T ENSP00000501033.1:p.Gln224Leu
ENST00000226760.5:c.671A>T MANE Select ENSP00000226760.1:p.Gln224Leu
ENST00000503569.5:c.671A>T ENSP00000423337.1:p.Gln224Leu
ENST00000506362.1:c.268A>T
ENST00000507765.1:n.856A>T
NM_001145853.1:c.671A>T NP_001139325.1:p.Gln224Leu
NM_006005.3:c.671A>T MANE Select NP_005996.2:p.Gln224Leu
XM_017008586.1:c.680A>T XP_016864075.1:p.Gln227Leu