Canonical Allele Identifier: CA438368611
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6302893G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301166G>A , CM000666.2:g.6301166G>A GRCh38
NC_000004.11:g.6302893G>A , CM000666.1:g.6302893G>A GRCh37
NC_000004.10:g.6353794G>A NCBI36
NG_011700.1:g.36317G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1407G>A ENSP00000507852.1:p.Arg469=
ENST00000683395.1:c.1348G>A
ENST00000684087.1:c.1371G>A ENSP00000506978.1:p.Arg457=
ENST00000506362.2:c.1122G>A ENSP00000424103.2:p.Arg374=
ENST00000673642.1:c.1030G>A ENSP00000501242.1:p.Gly344Ser
ENST00000673991.1:c.1407G>A ENSP00000501033.1:p.Arg469=
ENST00000226760.5:c.1371G>A MANE Select ENSP00000226760.1:p.Arg457=
ENST00000503569.5:c.1371G>A ENSP00000423337.1:p.Arg457=
ENST00000507765.1:n.1556G>A
NM_001145853.1:c.1371G>A NP_001139325.1:p.Arg457=
NM_006005.3:c.1371G>A MANE Select NP_005996.2:p.Arg457=
XM_017008586.1:c.1380G>A XP_016864075.1:p.Arg460=