Canonical Allele Identifier: CA2839344

Gene: WFS1

Linked Data

• dbSNP Id: rs773814197
• ExAC: 4:6302942 A / G
• gnomAD v2: 4-6302942-A-G
• gnomAD v3: 4-6301215-A-G
• gnomAD v4: 4-6301215-A-G
• MyVariant Identifiers: chr4:g.6302942A>G (hg19) ; chr4:g.6301215A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301215A>G , CM000666.2:g.6301215A>G	GRCh38
NC_000004.11:g.6302942A>G , CM000666.1:g.6302942A>G	GRCh37
NC_000004.10:g.6353843A>G	NCBI36
NG_011700.1:g.36366A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1456A>G	ENSP00000507852.1:p.Met486Val
ENST00000683395.1:c.1397A>G
ENST00000684087.1:c.1420A>G	ENSP00000506978.1:p.Met474Val
ENST00000506362.2:c.1171A>G	ENSP00000424103.2:p.Met391Val
ENST00000673642.1:c.1079A>G	ENSP00000501242.1:p.His360Arg
ENST00000673991.1:c.1456A>G	ENSP00000501033.1:p.Met486Val
ENST00000226760.5:c.1420A>G MANE Select	ENSP00000226760.1:p.Met474Val
ENST00000503569.5:c.1420A>G	ENSP00000423337.1:p.Met474Val
ENST00000507765.1:n.1605A>G
NM_001145853.1:c.1420A>G	NP_001139325.1:p.Met474Val
NM_006005.3:c.1420A>G MANE Select	NP_005996.2:p.Met474Val
XM_017008586.1:c.1429A>G	XP_016864075.1:p.Met477Val