Canonical Allele Identifier: CA356179155

Gene: WFS1

Linked Data

• dbSNP Id: rs750278568
• gnomAD v2: 4-6304055-A-C
• gnomAD v4: 4-6302328-A-C
• MyVariant Identifiers: chr4:g.6304055A>C (hg19) ; chr4:g.6302328A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302328A>C , CM000666.2:g.6302328A>C	GRCh38
NC_000004.11:g.6304055A>C , CM000666.1:g.6304055A>C	GRCh37
NC_000004.10:g.6354956A>C	NCBI36
NG_011700.1:g.37479A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2569A>C	ENSP00000507852.1:p.Ile857Leu
ENST00000683395.1:c.2510A>C
ENST00000684087.1:c.2533A>C	ENSP00000506978.1:p.Ile845Leu
ENST00000506362.2:c.2284A>C	ENSP00000424103.2:p.Ile762Leu
ENST00000673991.1:c.2569A>C	ENSP00000501033.1:p.Ile857Leu
ENST00000226760.5:c.2533A>C MANE Select	ENSP00000226760.1:p.Ile845Leu
ENST00000503569.5:c.2533A>C	ENSP00000423337.1:p.Ile845Leu
ENST00000507765.1:n.2718A>C
NM_001145853.1:c.2533A>C	NP_001139325.1:p.Ile845Leu
NM_006005.3:c.2533A>C MANE Select	NP_005996.2:p.Ile845Leu
XM_017008586.1:c.2542A>C	XP_016864075.1:p.Ile848Leu