Canonical Allele Identifier: CA228759

Gene: VWF

Linked Data

• ClinVar Variation Id: 100449
• ClinVar RCV Id: RCV000086861 ; RCV000851853 ; RCV004549534
• dbSNP Id: rs61750624
• ExAC: 12:6100984 C / A
• gnomAD v2: 12-6100984-C-A
• gnomAD v4: 12-5991818-C-A
• MyVariant Identifiers: chr12:g.6100984C>A (hg19) ; chr12:g.5991818C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5991818C>A , CM000674.2:g.5991818C>A	GRCh38
NC_000012.11:g.6100984C>A , CM000674.1:g.6100984C>A	GRCh37
NC_000012.10:g.5971245C>A	NCBI36
NG_009072.1:g.137853G>T
NG_009072.2:g.137853G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.6798+1G>T MANE Select	ENSP00000261405.5:n.6798+1G>T
ENST00000261405.9:c.6798+1G>T	ENSP00000261405.5:n.6798+1G>T
NM_000552.3:c.6798+1G>T	NP_000543.2:n.6798+1G>T
NM_000552.4:c.6798+1G>T	NP_000543.2:n.6798+1G>T
NM_000552.5:c.6798+1G>T MANE Select	NP_000543.3:n.6798+1G>T