Canonical Allele Identifier: CA549423239

Gene: WFS1

Linked Data

• dbSNP Id: rs1335509807
• gnomAD v2: 4-6293624-A-G
• MyVariant Identifiers: chr4:g.6293624A>G (hg19) ; chr4:g.6291897A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291897A>G , CM000666.2:g.6291897A>G	GRCh38
NC_000004.11:g.6293624A>G , CM000666.1:g.6293624A>G	GRCh37
NC_000004.10:g.6344525A>G	NCBI36
NG_011700.1:g.27048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.632-20A>G	ENSP00000507852.1:n.632-20A>G
ENST00000683395.1:c.609-20A>G
ENST00000684087.1:c.632-20A>G	ENSP00000506978.1:n.632-20A>G
ENST00000506362.2:c.383-20A>G	ENSP00000424103.2:n.383-20A>G
ENST00000673642.1:c.431-20A>G	ENSP00000501242.1:n.431-20A>G
ENST00000673991.1:c.632-20A>G	ENSP00000501033.1:n.632-20A>G
ENST00000226760.5:c.632-20A>G MANE Select	ENSP00000226760.1:n.632-20A>G
ENST00000503569.5:c.632-20A>G	ENSP00000423337.1:n.632-20A>G
ENST00000506362.1:c.229-20A>G
ENST00000507765.1:n.817-20A>G
NM_001145853.1:c.632-20A>G	NP_001139325.1:n.632-20A>G
NM_006005.3:c.632-20A>G MANE Select	NP_005996.2:n.632-20A>G
XM_017008586.1:c.641-20A>G	XP_016864075.1:n.641-20A>G