Canonical Allele Identifier: CA6403810

Gene: VWF

Linked Data

• ClinVar Variation Id: 256677
• ClinVar RCV Id: RCV000246724 ; RCV000382333 ; RCV002272194 ; RCV002244012
• dbSNP Id: rs76505074
• ExAC: 12:6219681 C / T
• gnomAD v2: 12-6219681-C-T
• gnomAD v3: 12-6110515-C-T
• gnomAD v4: 12-6110515-C-T
• MyVariant Identifiers: chr12:g.6219681C>T (hg19) ; chr12:g.6110515C>T (hg38)
• ERepo: CA6403810/MONDO:0019565/090

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6110515C>T , CM000674.2:g.6110515C>T	GRCh38
NC_000012.11:g.6219681C>T , CM000674.1:g.6219681C>T	GRCh37
NC_000012.10:g.6089942C>T	NCBI36
NG_009072.1:g.19156G>A
NG_009072.2:g.19156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.391G>A MANE Select	ENSP00000261405.5:p.Gly131Ser
ENST00000261405.9:c.391G>A	ENSP00000261405.5:p.Gly131Ser
ENST00000321023.5:c.*450G>A	ENSP00000461331.1:n.*450G>A
ENST00000538635.5:n.420G>A
NM_000552.3:c.391G>A	NP_000543.2:p.Gly131Ser
NM_000552.4:c.391G>A	NP_000543.2:p.Gly131Ser
NM_000552.5:c.391G>A MANE Select	NP_000543.3:p.Gly131Ser