Canonical Allele Identifier: CA356172229
Gene: WFS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291932C>A , CM000666.2:g.6291932C>A GRCh38
NC_000004.11:g.6293659C>A , CM000666.1:g.6293659C>A GRCh37
NC_000004.10:g.6344560C>A NCBI36
NG_011700.1:g.27083C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.647C>A ENSP00000507852.1:p.Pro216Gln
ENST00000683395.1:c.624C>A
ENST00000684087.1:c.647C>A ENSP00000506978.1:p.Pro216Gln
ENST00000506362.2:c.398C>A ENSP00000424103.2:p.Pro133Gln
ENST00000673642.1:c.446C>A ENSP00000501242.1:p.Pro149Gln
ENST00000673991.1:c.647C>A ENSP00000501033.1:p.Pro216Gln
ENST00000226760.5:c.647C>A MANE Select ENSP00000226760.1:p.Pro216Gln
ENST00000503569.5:c.647C>A ENSP00000423337.1:p.Pro216Gln
ENST00000506362.1:c.244C>A
ENST00000507765.1:n.832C>A
NM_001145853.1:c.647C>A NP_001139325.1:p.Pro216Gln
NM_006005.3:c.647C>A MANE Select NP_005996.2:p.Pro216Gln
XM_017008586.1:c.656C>A XP_016864075.1:p.Pro219Gln