Canonical Allele Identifier: CA324730

Gene: WFS1

Linked Data

• dbSNP Id: rs753516932
• gnomAD v4: 4-6301567-C-G
• MyVariant Identifiers: chr4:g.6303294C>G (hg19) ; chr4:g.6301567C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301567C>G , CM000666.2:g.6301567C>G	GRCh38
NC_000004.11:g.6303294C>G , CM000666.1:g.6303294C>G	GRCh37
NC_000004.10:g.6354195C>G	NCBI36
NG_011700.1:g.36718C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1808C>G	ENSP00000507852.1:p.Ser603Cys
ENST00000683395.1:c.1749C>G
ENST00000684087.1:c.1772C>G	ENSP00000506978.1:p.Ser591Cys
ENST00000506362.2:c.1523C>G	ENSP00000424103.2:p.Ser508Cys
ENST00000673642.1:c.1431C>G	ENSP00000501242.1:n.1431C>G
ENST00000673991.1:c.1808C>G	ENSP00000501033.1:p.Ser603Cys
ENST00000226760.5:c.1772C>G MANE Select	ENSP00000226760.1:p.Ser591Cys
ENST00000503569.5:c.1772C>G	ENSP00000423337.1:p.Ser591Cys
ENST00000507765.1:n.1957C>G
NM_001145853.1:c.1772C>G	NP_001139325.1:p.Ser591Cys
NM_006005.3:c.1772C>G MANE Select	NP_005996.2:p.Ser591Cys
XM_017008586.1:c.1781C>G	XP_016864075.1:p.Ser594Cys