Canonical Allele Identifier: CA356174401

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6302698G>T (hg19) ; chr4:g.6300971G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300971G>T , CM000666.2:g.6300971G>T	GRCh38
NC_000004.11:g.6302698G>T , CM000666.1:g.6302698G>T	GRCh37
NC_000004.10:g.6353599G>T	NCBI36
NG_011700.1:g.36122G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1212G>T	ENSP00000507852.1:p.Gln404His
ENST00000683395.1:c.1153G>T
ENST00000684087.1:c.1176G>T	ENSP00000506978.1:p.Gln392His
ENST00000506362.2:c.927G>T	ENSP00000424103.2:p.Gln309His
ENST00000673642.1:c.835G>T	ENSP00000501242.1:p.Gly279Cys
ENST00000673991.1:c.1212G>T	ENSP00000501033.1:p.Gln404His
ENST00000226760.5:c.1176G>T MANE Select	ENSP00000226760.1:p.Gln392His
ENST00000503569.5:c.1176G>T	ENSP00000423337.1:p.Gln392His
ENST00000507765.1:n.1361G>T
NM_001145853.1:c.1176G>T	NP_001139325.1:p.Gln392His
NM_006005.3:c.1176G>T MANE Select	NP_005996.2:p.Gln392His
XM_017008586.1:c.1185G>T	XP_016864075.1:p.Gln395His