Canonical Allele Identifier: CA356178438

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6303882C>T (hg19) ; chr4:g.6302155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302155C>T , CM000666.2:g.6302155C>T	GRCh38
NC_000004.11:g.6303882C>T , CM000666.1:g.6303882C>T	GRCh37
NC_000004.10:g.6354783C>T	NCBI36
NG_011700.1:g.37306C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2396C>T	ENSP00000507852.1:p.Ala799Val
ENST00000683395.1:c.2337C>T
ENST00000684087.1:c.2360C>T	ENSP00000506978.1:p.Ala787Val
ENST00000506362.2:c.2111C>T	ENSP00000424103.2:p.Ala704Val
ENST00000673991.1:c.2396C>T	ENSP00000501033.1:p.Ala799Val
ENST00000226760.5:c.2360C>T MANE Select	ENSP00000226760.1:p.Ala787Val
ENST00000503569.5:c.2360C>T	ENSP00000423337.1:p.Ala787Val
ENST00000507765.1:n.2545C>T
NM_001145853.1:c.2360C>T	NP_001139325.1:p.Ala787Val
NM_006005.3:c.2360C>T MANE Select	NP_005996.2:p.Ala787Val
XM_017008586.1:c.2369C>T	XP_016864075.1:p.Ala790Val