Canonical Allele Identifier: CA356176341

Gene: WFS1

Linked Data

• gnomAD v4: 4-6301422-C-G
• MyVariant Identifiers: chr4:g.6303149C>G (hg19) ; chr4:g.6301422C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301422C>G , CM000666.2:g.6301422C>G	GRCh38
NC_000004.11:g.6303149C>G , CM000666.1:g.6303149C>G	GRCh37
NC_000004.10:g.6354050C>G	NCBI36
NG_011700.1:g.36573C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1663C>G	ENSP00000507852.1:p.Leu555Val
ENST00000683395.1:c.1604C>G
ENST00000684087.1:c.1627C>G	ENSP00000506978.1:p.Leu543Val
ENST00000506362.2:c.1378C>G	ENSP00000424103.2:p.Leu460Val
ENST00000673642.1:c.1286C>G	ENSP00000501242.1:n.1286C>G
ENST00000673991.1:c.1663C>G	ENSP00000501033.1:p.Leu555Val
ENST00000226760.5:c.1627C>G MANE Select	ENSP00000226760.1:p.Leu543Val
ENST00000503569.5:c.1627C>G	ENSP00000423337.1:p.Leu543Val
ENST00000507765.1:n.1812C>G
NM_001145853.1:c.1627C>G	NP_001139325.1:p.Leu543Val
NM_006005.3:c.1627C>G MANE Select	NP_005996.2:p.Leu543Val
XM_017008586.1:c.1636C>G	XP_016864075.1:p.Leu546Val