Canonical Allele Identifier: CA6402595

Gene: VWF

Linked Data

• ClinVar Variation Id: 310063
• ClinVar RCV Id: RCV000400807 ; RCV000755447 ; RCV002244789 ; RCV002244791 ; RCV002244790
• dbSNP Id: rs11063988
• ExAC: 12:6128446 T / C
• gnomAD v2: 12-6128446-T-C
• gnomAD v3: 12-6019280-T-C
• gnomAD v4: 12-6019280-T-C
• MyVariant Identifiers: chr12:g.6128446T>C (hg19) ; chr12:g.6019280T>C (hg38)
• PubMed: PMID:20231421 ; PMID:22431572 ; PMID:23690449

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019280T>C , CM000674.2:g.6019280T>C	GRCh38
NC_000012.11:g.6128446T>C , CM000674.1:g.6128446T>C	GRCh37
NC_000012.10:g.5998707T>C	NCBI36
NG_009072.1:g.110391A>G
NG_009072.2:g.110391A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4138A>G MANE Select	ENSP00000261405.5:p.Ile1380Val
ENST00000261405.9:c.4138A>G	ENSP00000261405.5:p.Ile1380Val
ENST00000538635.5:n.421-25346A>G
NM_000552.3:c.4138A>G	NP_000543.2:p.Ile1380Val
NM_000552.4:c.4138A>G	NP_000543.2:p.Ile1380Val
NM_000552.5:c.4138A>G MANE Select	NP_000543.3:p.Ile1380Val