Canonical Allele Identifier: CA6402719

Gene: VWF

Linked Data

• ClinVar Variation Id: 2581491
• ClinVar RCV Id: RCV003331896
• dbSNP Id: rs185727822
• ExAC: 12:6131058 T / C
• gnomAD v2: 12-6131058-T-C
• gnomAD v3: 12-6021892-T-C
• gnomAD v4: 12-6021892-T-C
• MyVariant Identifiers: chr12:g.6131058T>C (hg19) ; chr12:g.6021892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6021892T>C , CM000674.2:g.6021892T>C	GRCh38
NC_000012.11:g.6131058T>C , CM000674.1:g.6131058T>C	GRCh37
NC_000012.10:g.6001319T>C	NCBI36
NG_009072.1:g.107779A>G
NG_009072.2:g.107779A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.3674+8A>G MANE Select	ENSP00000261405.5:n.3674+8A>G
ENST00000261405.9:c.3674+8A>G	ENSP00000261405.5:n.3674+8A>G
ENST00000538635.5:n.421-27958A>G
ENST00000539641.1:n.27+8A>G
NM_000552.3:c.3674+8A>G	NP_000543.2:n.3674+8A>G
NM_000552.4:c.3674+8A>G	NP_000543.2:n.3674+8A>G
NM_000552.5:c.3674+8A>G MANE Select	NP_000543.3:n.3674+8A>G