Canonical Allele Identifier: CA438210939
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6292952G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291225G>A , CM000666.2:g.6291225G>A GRCh38
NC_000004.11:g.6292952G>A , CM000666.1:g.6292952G>A GRCh37
NC_000004.10:g.6343853G>A NCBI36
NG_011700.1:g.26376G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.489G>A ENSP00000507852.1:p.Val163=
ENST00000683395.1:c.479G>A
ENST00000684087.1:c.489G>A ENSP00000506978.1:p.Val163=
ENST00000684700.1:c.489G>A ENSP00000507806.1:p.Val163=
ENST00000506362.2:c.240G>A ENSP00000424103.2:p.Val80=
ENST00000673642.1:c.288G>A ENSP00000501242.1:p.Val96=
ENST00000673991.1:c.489G>A ENSP00000501033.1:p.Val163=
ENST00000674051.1:c.363G>A ENSP00000501083.1:p.Val121=
ENST00000226760.5:c.489G>A MANE Select ENSP00000226760.1:p.Val163=
ENST00000503569.5:c.489G>A ENSP00000423337.1:p.Val163=
ENST00000506362.1:c.86G>A
ENST00000507765.1:n.674G>A
NM_001145853.1:c.489G>A NP_001139325.1:p.Val163=
NM_006005.3:c.489G>A MANE Select NP_005996.2:p.Val163=
XM_017008586.1:c.498G>A XP_016864075.1:p.Val166=