Canonical Allele Identifier: CA228704
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100420
ClinVar RCV Id: RCV000086830 RCV000343743 RCV000826083 RCV002243746 RCV003952537
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
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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
Search 100 bp 5'
Search 100 bp 3'