Canonical Allele Identifier: CA438368139
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6302692G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6300965G>C , CM000666.2:g.6300965G>C GRCh38
NC_000004.11:g.6302692G>C , CM000666.1:g.6302692G>C GRCh37
NC_000004.10:g.6353593G>C NCBI36
NG_011700.1:g.36116G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1206G>C ENSP00000507852.1:p.Val402=
ENST00000683395.1:c.1147G>C
ENST00000684087.1:c.1170G>C ENSP00000506978.1:p.Val390=
ENST00000506362.2:c.921G>C ENSP00000424103.2:p.Val307=
ENST00000673642.1:c.829G>C ENSP00000501242.1:p.Gly277Arg
ENST00000673991.1:c.1206G>C ENSP00000501033.1:p.Val402=
ENST00000226760.5:c.1170G>C MANE Select ENSP00000226760.1:p.Val390=
ENST00000503569.5:c.1170G>C ENSP00000423337.1:p.Val390=
ENST00000507765.1:n.1355G>C
NM_001145853.1:c.1170G>C NP_001139325.1:p.Val390=
NM_006005.3:c.1170G>C MANE Select NP_005996.2:p.Val390=
XM_017008586.1:c.1179G>C XP_016864075.1:p.Val393=