Canonical Allele Identifier: CA356176939

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1719380
• ClinVar RCV Id: RCV002303679
• MyVariant Identifiers: chr4:g.6303362A>G (hg19) ; chr4:g.6301635A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301635A>G , CM000666.2:g.6301635A>G	GRCh38
NC_000004.11:g.6303362A>G , CM000666.1:g.6303362A>G	GRCh37
NC_000004.10:g.6354263A>G	NCBI36
NG_011700.1:g.36786A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1876A>G	ENSP00000507852.1:p.Thr626Ala
ENST00000683395.1:c.1817A>G
ENST00000684087.1:c.1840A>G	ENSP00000506978.1:p.Thr614Ala
ENST00000506362.2:c.1591A>G	ENSP00000424103.2:p.Thr531Ala
ENST00000673642.1:c.1499A>G	ENSP00000501242.1:n.1499A>G
ENST00000673991.1:c.1876A>G	ENSP00000501033.1:p.Thr626Ala
ENST00000226760.5:c.1840A>G MANE Select	ENSP00000226760.1:p.Thr614Ala
ENST00000503569.5:c.1840A>G	ENSP00000423337.1:p.Thr614Ala
ENST00000507765.1:n.2025A>G
NM_001145853.1:c.1840A>G	NP_001139325.1:p.Thr614Ala
NM_006005.3:c.1840A>G MANE Select	NP_005996.2:p.Thr614Ala
XM_017008586.1:c.1849A>G	XP_016864075.1:p.Thr617Ala