Canonical Allele Identifier: CA228766

Gene: VWF

Linked Data

• ClinVar Variation Id: 100453
• ClinVar RCV Id: RCV000086865 ; RCV001336951
• dbSNP Id: rs62641242
• ExAC: 12:6094249 C / T
• gnomAD v2: 12-6094249-C-T
• gnomAD v3: 12-5985083-C-T
• gnomAD v4: 12-5985083-C-T
• MyVariant Identifiers: chr12:g.6094249C>T (hg19) ; chr12:g.5985083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5985083C>T , CM000674.2:g.5985083C>T	GRCh38
NC_000012.11:g.6094249C>T , CM000674.1:g.6094249C>T	GRCh37
NC_000012.10:g.5964510C>T	NCBI36
NG_009072.1:g.144588G>A
NG_009072.2:g.144588G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.6938G>A MANE Select	ENSP00000261405.5:p.Arg2313His
ENST00000261405.9:c.6938G>A	ENSP00000261405.5:p.Arg2313His
NM_000552.3:c.6938G>A	NP_000543.2:p.Arg2313His
NM_000552.4:c.6938G>A	NP_000543.2:p.Arg2313His
NM_000552.5:c.6938G>A MANE Select	NP_000543.3:p.Arg2313His