Canonical Allele Identifier: CA438211081

Gene: WFS1

Linked Data

• gnomAD v4: 4-6291981-C-G
• MyVariant Identifiers: chr4:g.6293708C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291981C>G , CM000666.2:g.6291981C>G	GRCh38
NC_000004.11:g.6293708C>G , CM000666.1:g.6293708C>G	GRCh37
NC_000004.10:g.6344609C>G	NCBI36
NG_011700.1:g.27132C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.696C>G	ENSP00000507852.1:p.Arg232=
ENST00000683395.1:c.673C>G
ENST00000684087.1:c.696C>G	ENSP00000506978.1:p.Arg232=
ENST00000506362.2:c.447C>G	ENSP00000424103.2:p.Arg149=
ENST00000673642.1:c.495C>G	ENSP00000501242.1:p.Arg165=
ENST00000673991.1:c.696C>G	ENSP00000501033.1:p.Arg232=
ENST00000226760.5:c.696C>G MANE Select	ENSP00000226760.1:p.Arg232=
ENST00000503569.5:c.696C>G	ENSP00000423337.1:p.Arg232=
ENST00000506362.1:c.293C>G
ENST00000507765.1:n.881C>G
NM_001145853.1:c.696C>G	NP_001139325.1:p.Arg232=
NM_006005.3:c.696C>G MANE Select	NP_005996.2:p.Arg232=
XM_017008586.1:c.705C>G	XP_016864075.1:p.Arg235=