Canonical Allele Identifier: CA114125
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 289
ClinVar RCV Id: RCV002225253
dbSNP Id: rs61749387
MyVariant Identifiers: chr12:g.6128662G>A (hg19) chr12:g.6019496G>A (hg38)
PubMed: PMID:1419803 PMID:1761120 PMID:2010538 PMID:8865541 PMID:20409624
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019496G>A , CM000674.2:g.6019496G>A GRCh38
NC_000012.11:g.6128662G>A , CM000674.1:g.6128662G>A GRCh37
NC_000012.10:g.5998923G>A NCBI36
NG_009072.1:g.110175C>T
NG_009072.2:g.110175C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3922C>T MANE Select ENSP00000261405.5:p.Arg1308Cys
ENST00000261405.9:c.3922C>T ENSP00000261405.5:p.Arg1308Cys
ENST00000538635.5:n.421-25562C>T
NM_000552.3:c.3922C>T NP_000543.2:p.Arg1308Cys
NM_000552.4:c.3922C>T NP_000543.2:p.Arg1308Cys
NM_000552.5:c.3922C>T MANE Select NP_000543.3:p.Arg1308Cys
Search 100 bp 5'
Search 100 bp 3'