Canonical Allele Identifier: CA322524

Gene: WFS1

Linked Data

• ClinVar Variation Id: 215387
• ClinVar RCV Id: RCV000345927 ; RCV000490282 ; RCV000825691 ; RCV000953870 ; RCV000987407
• dbSNP Id: rs144951440
• ExAC: 4:6302757 T / C
• gnomAD v2: 4-6302757-T-C
• gnomAD v3: 4-6301030-T-C
• gnomAD v4: 4-6301030-T-C
• MyVariant Identifiers: chr4:g.6302757T>C (hg19) ; chr4:g.6301030T>C (hg38)
• PubMed: PMID:15234338 ; PMID:17492394 ; PMID:17517145 ; PMID:23535966 ; PMID:23856252 ; PMID:23990876

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301030T>C , CM000666.2:g.6301030T>C	GRCh38
NC_000004.11:g.6302757T>C , CM000666.1:g.6302757T>C	GRCh37
NC_000004.10:g.6353658T>C	NCBI36
NG_011700.1:g.36181T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1271T>C	ENSP00000507852.1:p.Val424Ala
ENST00000683395.1:c.1212T>C
ENST00000684087.1:c.1235T>C	ENSP00000506978.1:p.Val412Ala
ENST00000506362.2:c.986T>C	ENSP00000424103.2:p.Val329Ala
ENST00000673642.1:c.894T>C	ENSP00000501242.1:p.Cys298=
ENST00000673991.1:c.1271T>C	ENSP00000501033.1:p.Val424Ala
ENST00000226760.5:c.1235T>C MANE Select	ENSP00000226760.1:p.Val412Ala
ENST00000503569.5:c.1235T>C	ENSP00000423337.1:p.Val412Ala
ENST00000507765.1:n.1420T>C
NM_001145853.1:c.1235T>C	NP_001139325.1:p.Val412Ala
NM_006005.3:c.1235T>C MANE Select	NP_005996.2:p.Val412Ala
XM_017008586.1:c.1244T>C	XP_016864075.1:p.Val415Ala