Canonical Allele Identifier: CA114151
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 302
ClinVar RCV Id: RCV000000329 RCV000087017
dbSNP Id: rs61749393
MyVariant Identifiers: chr12:g.6128644C>G (hg19) chr12:g.6019478C>G (hg38)
PubMed: PMID:1419803 PMID:20409624
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019478C>G , CM000674.2:g.6019478C>G GRCh38
NC_000012.11:g.6128644C>G , CM000674.1:g.6128644C>G GRCh37
NC_000012.10:g.5998905C>G NCBI36
NG_009072.1:g.110193G>C
NG_009072.2:g.110193G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3940G>C MANE Select ENSP00000261405.5:p.Val1314Leu
ENST00000261405.9:c.3940G>C ENSP00000261405.5:p.Val1314Leu
ENST00000538635.5:n.421-25544G>C
NM_000552.3:c.3940G>C NP_000543.2:p.Val1314Leu
NM_000552.4:c.3940G>C NP_000543.2:p.Val1314Leu
NM_000552.5:c.3940G>C MANE Select NP_000543.3:p.Val1314Leu
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