Canonical Allele Identifier: CA2839161

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1704077
• ClinVar RCV Id: RCV002281412
• dbSNP Id: rs764627117
• ExAC: 4:6302461 C / G
• gnomAD v2: 4-6302461-C-G
• gnomAD v4: 4-6300734-C-G
• MyVariant Identifiers: chr4:g.6302461C>G (hg19) ; chr4:g.6300734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300734C>G , CM000666.2:g.6300734C>G	GRCh38
NC_000004.11:g.6302461C>G , CM000666.1:g.6302461C>G	GRCh37
NC_000004.10:g.6353362C>G	NCBI36
NG_011700.1:g.35885C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.975C>G	ENSP00000507852.1:p.His325Gln
ENST00000683395.1:c.916C>G
ENST00000684087.1:c.939C>G	ENSP00000506978.1:p.His313Gln
ENST00000506362.2:c.690C>G	ENSP00000424103.2:p.His230Gln
ENST00000673642.1:c.661-63C>G	ENSP00000501242.1:n.661-63C>G
ENST00000673991.1:c.975C>G	ENSP00000501033.1:p.His325Gln
ENST00000226760.5:c.939C>G MANE Select	ENSP00000226760.1:p.His313Gln
ENST00000503569.5:c.939C>G	ENSP00000423337.1:p.His313Gln
ENST00000506362.1:c.572C>G
ENST00000507765.1:n.1124C>G
ENST00000513395.1:n.497C>G
NM_001145853.1:c.939C>G	NP_001139325.1:p.His313Gln
NM_006005.3:c.939C>G MANE Select	NP_005996.2:p.His313Gln
XM_017008586.1:c.948C>G	XP_016864075.1:p.His316Gln