Canonical Allele Identifier: CA228704

Gene: VWF

Linked Data

• ClinVar Variation Id: 100420
• ClinVar RCV Id: RCV000086830 ; RCV000343743 ; RCV000826083 ; RCV004549531 ; RCV002243746
• dbSNP Id: rs61750603
• ExAC: 12:6125802 A / T
• gnomAD v2: 12-6125802-A-T
• gnomAD v3: 12-6016636-A-T
• gnomAD v4: 12-6016636-A-T
• MyVariant Identifiers: chr12:g.6125802A>T (hg19) ; chr12:g.6016636A>T (hg38)
• PubMed: PMID:11583318 ; PMID:18036186 ; PMID:19630771 ; PMID:19687512 ; PMID:20345715 ; PMID:21967679 ; PMID:23216583 ; PMID:23406206 ; PMID:24385719 ; PMID:25051961 ; PMID:25696906 ; PMID:26986123

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6016636A>T , CM000674.2:g.6016636A>T	GRCh38
NC_000012.11:g.6125802A>T , CM000674.1:g.6125802A>T	GRCh37
NC_000012.10:g.5996063A>T	NCBI36
NG_009072.1:g.113035T>A
NG_009072.2:g.113035T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5191T>A MANE Select	ENSP00000261405.5:p.Ser1731Thr
ENST00000261405.9:c.5191T>A	ENSP00000261405.5:p.Ser1731Thr
ENST00000538635.5:n.421-22702T>A
NM_000552.3:c.5191T>A	NP_000543.2:p.Ser1731Thr
NM_000552.4:c.5191T>A	NP_000543.2:p.Ser1731Thr
NM_000552.5:c.5191T>A MANE Select	NP_000543.3:p.Ser1731Thr