Canonical Allele Identifier: CA2839294

Gene: WFS1

Linked Data

• dbSNP Id: rs753055225
• ExAC: 4:6302803 C / G
• gnomAD v2: 4-6302803-C-G
• gnomAD v4: 4-6301076-C-G
• MyVariant Identifiers: chr4:g.6302803C>G (hg19) ; chr4:g.6301076C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301076C>G , CM000666.2:g.6301076C>G	GRCh38
NC_000004.11:g.6302803C>G , CM000666.1:g.6302803C>G	GRCh37
NC_000004.10:g.6353704C>G	NCBI36
NG_011700.1:g.36227C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1317C>G	ENSP00000507852.1:p.Ile439Met
ENST00000683395.1:c.1258C>G
ENST00000684087.1:c.1281C>G	ENSP00000506978.1:p.Ile427Met
ENST00000506362.2:c.1032C>G	ENSP00000424103.2:p.Ile344Met
ENST00000673642.1:c.940C>G	ENSP00000501242.1:p.Pro314Ala
ENST00000673991.1:c.1317C>G	ENSP00000501033.1:p.Ile439Met
ENST00000226760.5:c.1281C>G MANE Select	ENSP00000226760.1:p.Ile427Met
ENST00000503569.5:c.1281C>G	ENSP00000423337.1:p.Ile427Met
ENST00000507765.1:n.1466C>G
NM_001145853.1:c.1281C>G	NP_001139325.1:p.Ile427Met
NM_006005.3:c.1281C>G MANE Select	NP_005996.2:p.Ile427Met
XM_017008586.1:c.1290C>G	XP_016864075.1:p.Ile430Met