Canonical Allele Identifier: CA356176687

Gene: WFS1

Linked Data

• dbSNP Id: rs1371660563
• gnomAD v2: 4-6303257-C-A
• gnomAD v4: 4-6301530-C-A
• MyVariant Identifiers: chr4:g.6303257C>A (hg19) ; chr4:g.6301530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301530C>A , CM000666.2:g.6301530C>A	GRCh38
NC_000004.11:g.6303257C>A , CM000666.1:g.6303257C>A	GRCh37
NC_000004.10:g.6354158C>A	NCBI36
NG_011700.1:g.36681C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1771C>A	ENSP00000507852.1:p.Leu591Met
ENST00000683395.1:c.1712C>A
ENST00000684087.1:c.1735C>A	ENSP00000506978.1:p.Leu579Met
ENST00000506362.2:c.1486C>A	ENSP00000424103.2:p.Leu496Met
ENST00000673642.1:c.1394C>A	ENSP00000501242.1:n.1394C>A
ENST00000673991.1:c.1771C>A	ENSP00000501033.1:p.Leu591Met
ENST00000226760.5:c.1735C>A MANE Select	ENSP00000226760.1:p.Leu579Met
ENST00000503569.5:c.1735C>A	ENSP00000423337.1:p.Leu579Met
ENST00000507765.1:n.1920C>A
NM_001145853.1:c.1735C>A	NP_001139325.1:p.Leu579Met
NM_006005.3:c.1735C>A MANE Select	NP_005996.2:p.Leu579Met
XM_017008586.1:c.1744C>A	XP_016864075.1:p.Leu582Met