Canonical Allele Identifier: CA356174457

Gene: WFS1

Linked Data

• gnomAD v4: 4-6300998-C-G
• MyVariant Identifiers: chr4:g.6302725C>G (hg19) ; chr4:g.6300998C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300998C>G , CM000666.2:g.6300998C>G	GRCh38
NC_000004.11:g.6302725C>G , CM000666.1:g.6302725C>G	GRCh37
NC_000004.10:g.6353626C>G	NCBI36
NG_011700.1:g.36149C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1239C>G	ENSP00000507852.1:p.His413Gln
ENST00000683395.1:c.1180C>G
ENST00000684087.1:c.1203C>G	ENSP00000506978.1:p.His401Gln
ENST00000506362.2:c.954C>G	ENSP00000424103.2:p.His318Gln
ENST00000673642.1:c.862C>G	ENSP00000501242.1:p.Pro288Ala
ENST00000673991.1:c.1239C>G	ENSP00000501033.1:p.His413Gln
ENST00000226760.5:c.1203C>G MANE Select	ENSP00000226760.1:p.His401Gln
ENST00000503569.5:c.1203C>G	ENSP00000423337.1:p.His401Gln
ENST00000507765.1:n.1388C>G
NM_001145853.1:c.1203C>G	NP_001139325.1:p.His401Gln
NM_006005.3:c.1203C>G MANE Select	NP_005996.2:p.His401Gln
XM_017008586.1:c.1212C>G	XP_016864075.1:p.His404Gln