Canonical Allele Identifier: CA438211073
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6293693G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6291966G>A , CM000666.2:g.6291966G>A GRCh38
NC_000004.11:g.6293693G>A , CM000666.1:g.6293693G>A GRCh37
NC_000004.10:g.6344594G>A NCBI36
NG_011700.1:g.27117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.681G>A ENSP00000507852.1:p.Arg227=
ENST00000683395.1:c.658G>A
ENST00000684087.1:c.681G>A ENSP00000506978.1:p.Arg227=
ENST00000506362.2:c.432G>A ENSP00000424103.2:p.Arg144=
ENST00000673642.1:c.480G>A ENSP00000501242.1:p.Arg160=
ENST00000673991.1:c.681G>A ENSP00000501033.1:p.Arg227=
ENST00000226760.5:c.681G>A MANE Select ENSP00000226760.1:p.Arg227=
ENST00000503569.5:c.681G>A ENSP00000423337.1:p.Arg227=
ENST00000506362.1:c.278G>A
ENST00000507765.1:n.866G>A
NM_001145853.1:c.681G>A NP_001139325.1:p.Arg227=
NM_006005.3:c.681G>A MANE Select NP_005996.2:p.Arg227=
XM_017008586.1:c.690G>A XP_016864075.1:p.Arg230=