Canonical Allele Identifier: CA356172181

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6293092A>T (hg19) ; chr4:g.6291365A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291365A>T , CM000666.2:g.6291365A>T	GRCh38
NC_000004.11:g.6293092A>T , CM000666.1:g.6293092A>T	GRCh37
NC_000004.10:g.6343993A>T	NCBI36
NG_011700.1:g.26516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.629A>T	ENSP00000507852.1:p.His210Leu
ENST00000683395.1:c.608+11A>T
ENST00000684087.1:c.629A>T	ENSP00000506978.1:p.His210Leu
ENST00000684700.1:c.629A>T	ENSP00000507806.1:p.His210Leu
ENST00000506362.2:c.380A>T	ENSP00000424103.2:p.His127Leu
ENST00000673642.1:c.428A>T	ENSP00000501242.1:p.His143Leu
ENST00000673991.1:c.629A>T	ENSP00000501033.1:p.His210Leu
ENST00000226760.5:c.629A>T MANE Select	ENSP00000226760.1:p.His210Leu
ENST00000503569.5:c.629A>T	ENSP00000423337.1:p.His210Leu
ENST00000506362.1:c.226A>T
ENST00000507765.1:n.814A>T
NM_001145853.1:c.629A>T	NP_001139325.1:p.His210Leu
NM_006005.3:c.629A>T MANE Select	NP_005996.2:p.His210Leu
XM_017008586.1:c.638A>T	XP_016864075.1:p.His213Leu