Canonical Allele Identifier: CA356174449

Gene: WFS1

Linked Data

• dbSNP Id: rs1487098659
• gnomAD v2: 4-6302722-C-G
• gnomAD v4: 4-6300995-C-G
• MyVariant Identifiers: chr4:g.6302722C>G (hg19) ; chr4:g.6300995C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300995C>G , CM000666.2:g.6300995C>G	GRCh38
NC_000004.11:g.6302722C>G , CM000666.1:g.6302722C>G	GRCh37
NC_000004.10:g.6353623C>G	NCBI36
NG_011700.1:g.36146C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1236C>G	ENSP00000507852.1:p.Asn412Lys
ENST00000683395.1:c.1177C>G
ENST00000684087.1:c.1200C>G	ENSP00000506978.1:p.Asn400Lys
ENST00000506362.2:c.951C>G	ENSP00000424103.2:p.Asn317Lys
ENST00000673642.1:c.859C>G	ENSP00000501242.1:p.Pro287Ala
ENST00000673991.1:c.1236C>G	ENSP00000501033.1:p.Asn412Lys
ENST00000226760.5:c.1200C>G MANE Select	ENSP00000226760.1:p.Asn400Lys
ENST00000503569.5:c.1200C>G	ENSP00000423337.1:p.Asn400Lys
ENST00000507765.1:n.1385C>G
NM_001145853.1:c.1200C>G	NP_001139325.1:p.Asn400Lys
NM_006005.3:c.1200C>G MANE Select	NP_005996.2:p.Asn400Lys
XM_017008586.1:c.1209C>G	XP_016864075.1:p.Asn403Lys