Canonical Allele Identifier: CA438368566
Gene: WFS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.6303083C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6301356C>T , CM000666.2:g.6301356C>T GRCh38
NC_000004.11:g.6303083C>T , CM000666.1:g.6303083C>T GRCh37
NC_000004.10:g.6353984C>T NCBI36
NG_011700.1:g.36507C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.1597C>T ENSP00000507852.1:p.Leu533=
ENST00000683395.1:c.1538C>T
ENST00000684087.1:c.1561C>T ENSP00000506978.1:p.Leu521=
ENST00000506362.2:c.1312C>T ENSP00000424103.2:p.Leu438=
ENST00000673642.1:c.1220C>T ENSP00000501242.1:p.Ala407Val
ENST00000673991.1:c.1597C>T ENSP00000501033.1:p.Leu533=
ENST00000226760.5:c.1561C>T MANE Select ENSP00000226760.1:p.Leu521=
ENST00000503569.5:c.1561C>T ENSP00000423337.1:p.Leu521=
ENST00000507765.1:n.1746C>T
NM_001145853.1:c.1561C>T NP_001139325.1:p.Leu521=
NM_006005.3:c.1561C>T MANE Select NP_005996.2:p.Leu521=
XM_017008586.1:c.1570C>T XP_016864075.1:p.Leu524=