Canonical Allele Identifier: CA136328

Gene: WFS1

Linked Data

• ClinVar Variation Id: 45430
• ClinVar RCV Id: RCV000038634 ; RCV000285280 ; RCV000379830 ; RCV000876661 ; RCV002463626
• dbSNP Id: rs71530904
• ExAC: 4:6302656 C / A
• gnomAD v2: 4-6302656-C-A
• gnomAD v3: 4-6300929-C-A
• gnomAD v4: 4-6300929-C-A
• MyVariant Identifiers: chr4:g.6302656C>A (hg19) ; chr4:g.6300929C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300929C>A , CM000666.2:g.6300929C>A	GRCh38
NC_000004.11:g.6302656C>A , CM000666.1:g.6302656C>A	GRCh37
NC_000004.10:g.6353557C>A	NCBI36
NG_011700.1:g.36080C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1170C>A	ENSP00000507852.1:p.Thr390=
ENST00000683395.1:c.1111C>A
ENST00000684087.1:c.1134C>A	ENSP00000506978.1:p.Thr378=
ENST00000506362.2:c.885C>A	ENSP00000424103.2:p.Thr295=
ENST00000673642.1:c.793C>A	ENSP00000501242.1:p.Arg265=
ENST00000673991.1:c.1170C>A	ENSP00000501033.1:p.Thr390=
ENST00000226760.5:c.1134C>A MANE Select	ENSP00000226760.1:p.Thr378=
ENST00000503569.5:c.1134C>A	ENSP00000423337.1:p.Thr378=
ENST00000507765.1:n.1319C>A
NM_001145853.1:c.1134C>A	NP_001139325.1:p.Thr378=
NM_006005.3:c.1134C>A MANE Select	NP_005996.2:p.Thr378=
XM_017008586.1:c.1143C>A	XP_016864075.1:p.Thr381=