Canonical Allele Identifier: CA6403020

Gene: VWF

Linked Data

• ClinVar Variation Id: 417966
• ClinVar RCV Id: RCV000477961 ; RCV000852094
• dbSNP Id: rs765163545
• ExAC: 12:6143969 T / C
• gnomAD v2: 12-6143969-T-C
• gnomAD v3: 12-6034803-T-C
• gnomAD v4: 12-6034803-T-C
• MyVariant Identifiers: chr12:g.6143969T>C (hg19) ; chr12:g.6034803T>C (hg38)
• PubMed: PMID:20418283 ; PMID:22871923

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6034803T>C , CM000674.2:g.6034803T>C	GRCh38
NC_000012.11:g.6143969T>C , CM000674.1:g.6143969T>C	GRCh37
NC_000012.10:g.6014230T>C	NCBI36
NG_009072.1:g.94868A>G
NG_009072.2:g.94868A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2570A>G MANE Select	ENSP00000261405.5:p.Asn857Ser
ENST00000261405.9:c.2570A>G	ENSP00000261405.5:p.Asn857Ser
ENST00000538635.5:n.421-40869A>G
NM_000552.3:c.2570A>G	NP_000543.2:p.Asn857Ser
NM_000552.4:c.2570A>G	NP_000543.2:p.Asn857Ser
NM_000552.5:c.2570A>G MANE Select	NP_000543.3:p.Asn857Ser