Canonical Allele Identifier: CA114123
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 288
ClinVar RCV Id: RCV000000312 RCV000086699 RCV000851599 RCV000851989 RCV000851990
dbSNP Id: rs61749384
MyVariant Identifiers: chr12:g.6128668G>A (hg19) chr12:g.6019502G>A (hg38)
PubMed: PMID:1419803 PMID:1557393 PMID:1672694 PMID:2010538 PMID:6767976 PMID:9723578 PMID:15041272 PMID:20409624 PMID:22077376 PMID:27029718
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019502G>A , CM000674.2:g.6019502G>A GRCh38
NC_000012.11:g.6128668G>A , CM000674.1:g.6128668G>A GRCh37
NC_000012.10:g.5998929G>A NCBI36
NG_009072.1:g.110169C>T
NG_009072.2:g.110169C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3916C>T MANE Select ENSP00000261405.5:p.Arg1306Trp
ENST00000261405.9:c.3916C>T ENSP00000261405.5:p.Arg1306Trp
ENST00000538635.5:n.421-25568C>T
NM_000552.3:c.3916C>T NP_000543.2:p.Arg1306Trp
NM_000552.4:c.3916C>T NP_000543.2:p.Arg1306Trp
NM_000552.5:c.3916C>T MANE Select NP_000543.3:p.Arg1306Trp
Search 100 bp 5'
Search 100 bp 3'