Canonical Allele Identifier: CA228368

Gene: VWF

Linked Data

• ClinVar Variation Id: 100240
• ClinVar RCV Id: RCV000086632 ; RCV001787051 ; RCV002243720 ; RCV002243719 ; RCV003447494
• dbSNP Id: rs33978901
• ExAC: 12:6140659 C / T
• gnomAD v2: 12-6140659-C-T
• gnomAD v3: 12-6031493-C-T
• gnomAD v4: 12-6031493-C-T
• MyVariant Identifiers: chr12:g.6140659C>T (hg19) ; chr12:g.6031493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6031493C>T , CM000674.2:g.6031493C>T	GRCh38
NC_000012.11:g.6140659C>T , CM000674.1:g.6140659C>T	GRCh37
NC_000012.10:g.6010920C>T	NCBI36
NG_009072.1:g.98178G>A
NG_009072.2:g.98178G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2771G>A MANE Select	ENSP00000261405.5:p.Arg924Gln
ENST00000261405.9:c.2771G>A	ENSP00000261405.5:p.Arg924Gln
ENST00000538635.5:n.421-37559G>A
NM_000552.3:c.2771G>A	NP_000543.2:p.Arg924Gln
NM_000552.4:c.2771G>A	NP_000543.2:p.Arg924Gln
NM_000552.5:c.2771G>A MANE Select	NP_000543.3:p.Arg924Gln