Canonical Allele Identifier: CA6402474
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 256682
ClinVar RCV Id: RCV000244522 RCV000382042 RCV001812685 RCV002244026 RCV002244027 RCV002244025
dbSNP Id: rs1800385
ExAC: 12:6127891 C / A
gnomAD v2: 12-6127891-C-A
gnomAD v3: 12-6018725-C-A
gnomAD v4: 12-6018725-C-A
MyVariant Identifiers: chr12:g.6127891C>A (hg19) chr12:g.6018725C>A (hg38)
ERepo: CA6402474/MONDO:0019565/090
PubMed: PMID:17296575
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018725C>A , CM000674.2:g.6018725C>A GRCh38
NC_000012.11:g.6127891C>A , CM000674.1:g.6127891C>A GRCh37
NC_000012.10:g.5998152C>A NCBI36
NG_009072.1:g.110946G>T
NG_009072.2:g.110946G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4693G>T MANE Select ENSP00000261405.5:p.Val1565Leu
ENST00000261405.9:c.4693G>T ENSP00000261405.5:p.Val1565Leu
ENST00000538635.5:n.421-24791G>T
NM_000552.3:c.4693G>T NP_000543.2:p.Val1565Leu
NM_000552.4:c.4693G>T NP_000543.2:p.Val1565Leu
NM_000552.5:c.4693G>T MANE Select NP_000543.3:p.Val1565Leu
Search 100 bp 5'
Search 100 bp 3'