Canonical Allele Identifier: CA2839003

Gene: WFS1

Linked Data

• dbSNP Id: rs756887340
• ExAC: 4:6293728 A / C
• gnomAD v2: 4-6293728-A-C
• gnomAD v3: 4-6292001-A-C
• gnomAD v4: 4-6292001-A-C
• MyVariant Identifiers: chr4:g.6293728A>C (hg19) ; chr4:g.6292001A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6292001A>C , CM000666.2:g.6292001A>C	GRCh38
NC_000004.11:g.6293728A>C , CM000666.1:g.6293728A>C	GRCh37
NC_000004.10:g.6344629A>C	NCBI36
NG_011700.1:g.27152A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.712+4A>C	ENSP00000507852.1:n.712+4A>C
ENST00000683395.1:c.689+4A>C
ENST00000684087.1:c.712+4A>C	ENSP00000506978.1:n.712+4A>C
ENST00000506362.2:c.463+4A>C	ENSP00000424103.2:n.463+4A>C
ENST00000673642.1:c.511+4A>C	ENSP00000501242.1:n.511+4A>C
ENST00000673991.1:c.712+4A>C	ENSP00000501033.1:n.712+4A>C
ENST00000226760.5:c.712+4A>C MANE Select	ENSP00000226760.1:n.712+4A>C
ENST00000503569.5:c.712+4A>C	ENSP00000423337.1:n.712+4A>C
ENST00000506362.1:c.309+4A>C
ENST00000507765.1:n.897+4A>C
NM_001145853.1:c.712+4A>C	NP_001139325.1:n.712+4A>C
NM_006005.3:c.712+4A>C MANE Select	NP_005996.2:n.712+4A>C
XM_017008586.1:c.721+4A>C	XP_016864075.1:n.721+4A>C