Canonical Allele Identifier: CA228858

Gene: VWF

Linked Data

• ClinVar Variation Id: 100509
• ClinVar RCV Id: RCV000086924
• dbSNP Id: rs267607372
• MyVariant Identifiers: chr12:g.6058207A>G (hg19) ; chr12:g.5949041A>G (hg38)
• PubMed: PMID:12737944 ; PMID:14995987 ; PMID:22207689

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5949041A>G , CM000674.2:g.5949041A>G	GRCh38
NC_000012.11:g.6058207A>G , CM000674.1:g.6058207A>G	GRCh37
NC_000012.10:g.5928468A>G	NCBI36
NG_009072.1:g.180630T>C
NG_009072.2:g.180630T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.8416T>C MANE Select	ENSP00000261405.5:p.Cys2806Arg
ENST00000261405.9:c.8416T>C	ENSP00000261405.5:p.Cys2806Arg
NM_000552.3:c.8416T>C	NP_000543.2:p.Cys2806Arg
NM_000552.4:c.8416T>C	NP_000543.2:p.Cys2806Arg
NM_000552.5:c.8416T>C MANE Select	NP_000543.3:p.Cys2806Arg