Canonical Allele Identifier: CA438211064

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1993337
• ClinVar RCV Id: RCV002801316
• MyVariant Identifiers: chr4:g.6293679C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291952C>T , CM000666.2:g.6291952C>T	GRCh38
NC_000004.11:g.6293679C>T , CM000666.1:g.6293679C>T	GRCh37
NC_000004.10:g.6344580C>T	NCBI36
NG_011700.1:g.27103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.667C>T	ENSP00000507852.1:p.Leu223=
ENST00000683395.1:c.644C>T
ENST00000684087.1:c.667C>T	ENSP00000506978.1:p.Leu223=
ENST00000506362.2:c.418C>T	ENSP00000424103.2:p.Leu140=
ENST00000673642.1:c.466C>T	ENSP00000501242.1:p.Leu156=
ENST00000673991.1:c.667C>T	ENSP00000501033.1:p.Leu223=
ENST00000226760.5:c.667C>T MANE Select	ENSP00000226760.1:p.Leu223=
ENST00000503569.5:c.667C>T	ENSP00000423337.1:p.Leu223=
ENST00000506362.1:c.264C>T
ENST00000507765.1:n.852C>T
NM_001145853.1:c.667C>T	NP_001139325.1:p.Leu223=
NM_006005.3:c.667C>T MANE Select	NP_005996.2:p.Leu223=
XM_017008586.1:c.676C>T	XP_016864075.1:p.Leu226=