Canonical Allele Identifier: CA228410

Gene: VWF

Linked Data

• ClinVar Variation Id: 309
• ClinVar RCV Id: RCV000000337 ; RCV000086657 ; RCV002264636
• dbSNP Id: rs61748511
• gnomAD v4: 12-6022833-A-G
• MyVariant Identifiers: chr12:g.6131999A>G (hg19) ; chr12:g.6022833A>G (hg38)
• ERepo: CA228410/MONDO:0015628/081
• PubMed: PMID:8839833 ; PMID:11698279

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6022833A>G , CM000674.2:g.6022833A>G	GRCh38
NC_000012.11:g.6131999A>G , CM000674.1:g.6131999A>G	GRCh37
NC_000012.10:g.6002260A>G	NCBI36
NG_009072.1:g.106838T>C
NG_009072.2:g.106838T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3445T>C MANE Select	ENSP00000261405.5:p.Cys1149Arg
ENST00000261405.9:c.3445T>C	ENSP00000261405.5:p.Cys1149Arg
ENST00000538635.5:n.421-28899T>C
NM_000552.3:c.3445T>C	NP_000543.2:p.Cys1149Arg
NM_000552.4:c.3445T>C	NP_000543.2:p.Cys1149Arg
NM_000552.5:c.3445T>C MANE Select	NP_000543.3:p.Cys1149Arg