Canonical Allele Identifier: CA6403256

Gene: VWF

Linked Data

• ClinVar Variation Id: 391499
• ClinVar RCV Id: RCV000759383 ; RCV001821208 ; RCV004551498 ; RCV002506077
• dbSNP Id: rs200586078
• ExAC: 12:6166151 C / T
• gnomAD v2: 12-6166151-C-T
• gnomAD v3: 12-6056985-C-T
• gnomAD v4: 12-6056985-C-T
• MyVariant Identifiers: chr12:g.6166151C>T (hg19) ; chr12:g.6056985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6056985C>T , CM000674.2:g.6056985C>T	GRCh38
NC_000012.11:g.6166151C>T , CM000674.1:g.6166151C>T	GRCh37
NC_000012.10:g.6036412C>T	NCBI36
NG_009072.1:g.72686G>A
NG_009072.2:g.72686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1817G>A MANE Select	ENSP00000261405.5:p.Arg606Gln
ENST00000261405.9:c.1817G>A	ENSP00000261405.5:p.Arg606Gln
ENST00000538635.5:n.420+53530G>A
NM_000552.3:c.1817G>A	NP_000543.2:p.Arg606Gln
NM_000552.4:c.1817G>A	NP_000543.2:p.Arg606Gln
NM_000552.5:c.1817G>A MANE Select	NP_000543.3:p.Arg606Gln