Canonical Allele Identifier: CA2839162

Gene: WFS1

Linked Data

• ClinVar Variation Id: 2120054
• ClinVar RCV Id: RCV003024961
• dbSNP Id: rs752306040
• ExAC: 4:6302465 C / T
• gnomAD v2: 4-6302465-C-T
• gnomAD v4: 4-6300738-C-T
• MyVariant Identifiers: chr4:g.6302465C>T (hg19) ; chr4:g.6300738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300738C>T , CM000666.2:g.6300738C>T	GRCh38
NC_000004.11:g.6302465C>T , CM000666.1:g.6302465C>T	GRCh37
NC_000004.10:g.6353366C>T	NCBI36
NG_011700.1:g.35889C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.979C>T	ENSP00000507852.1:p.Leu327=
ENST00000683395.1:c.920C>T
ENST00000684087.1:c.943C>T	ENSP00000506978.1:p.Leu315=
ENST00000506362.2:c.694C>T	ENSP00000424103.2:p.Leu232=
ENST00000673642.1:c.661-59C>T	ENSP00000501242.1:n.661-59C>T
ENST00000673991.1:c.979C>T	ENSP00000501033.1:p.Leu327=
ENST00000226760.5:c.943C>T MANE Select	ENSP00000226760.1:p.Leu315=
ENST00000503569.5:c.943C>T	ENSP00000423337.1:p.Leu315=
ENST00000506362.1:c.576C>T
ENST00000507765.1:n.1128C>T
ENST00000513395.1:n.501C>T
NM_001145853.1:c.943C>T	NP_001139325.1:p.Leu315=
NM_006005.3:c.943C>T MANE Select	NP_005996.2:p.Leu315=
XM_017008586.1:c.952C>T	XP_016864075.1:p.Leu318=