Canonical Allele Identifier: CA228590

Gene: VWF

Linked Data

• ClinVar Variation Id: 100355
• ClinVar RCV Id: RCV000086760 ; RCV002466430
• dbSNP Id: rs61750090
• ExAC: 12:6128200 G / C
• gnomAD v2: 12-6128200-G-C
• gnomAD v3: 12-6019034-G-C
• gnomAD v4: 12-6019034-G-C
• MyVariant Identifiers: chr12:g.6128200G>C (hg19) ; chr12:g.6019034G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019034G>C , CM000674.2:g.6019034G>C	GRCh38
NC_000012.11:g.6128200G>C , CM000674.1:g.6128200G>C	GRCh37
NC_000012.10:g.5998461G>C	NCBI36
NG_009072.1:g.110637C>G
NG_009072.2:g.110637C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4384C>G MANE Select	ENSP00000261405.5:p.Pro1462Ala
ENST00000261405.9:c.4384C>G	ENSP00000261405.5:p.Pro1462Ala
ENST00000538635.5:n.421-25100C>G
NM_000552.3:c.4384C>G	NP_000543.2:p.Pro1462Ala
NM_000552.4:c.4384C>G	NP_000543.2:p.Pro1462Ala
NM_000552.5:c.4384C>G MANE Select	NP_000543.3:p.Pro1462Ala