Canonical Allele Identifier: CA114121

Gene: VWF

Linked Data

• ClinVar Variation Id: 287
• ClinVar RCV Id: RCV000000311 ; RCV000086709
• dbSNP Id: rs61749392
• MyVariant Identifiers: chr12:g.6128645C>G (hg19) ; chr12:g.6019479C>G (hg38)
• PubMed: PMID:2011604 ; PMID:3132965 ; PMID:20409624

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019479C>G , CM000674.2:g.6019479C>G	GRCh38
NC_000012.11:g.6128645C>G , CM000674.1:g.6128645C>G	GRCh37
NC_000012.10:g.5998906C>G	NCBI36
NG_009072.1:g.110192G>C
NG_009072.2:g.110192G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3939G>C MANE Select	ENSP00000261405.5:p.Trp1313Cys
ENST00000261405.9:c.3939G>C	ENSP00000261405.5:p.Trp1313Cys
ENST00000538635.5:n.421-25545G>C
NM_000552.3:c.3939G>C	NP_000543.2:p.Trp1313Cys
NM_000552.4:c.3939G>C	NP_000543.2:p.Trp1313Cys
NM_000552.5:c.3939G>C MANE Select	NP_000543.3:p.Trp1313Cys