Canonical Allele Identifier: CA228459

Gene: VWF

Linked Data

• ClinVar Variation Id: 100288
• ClinVar RCV Id: RCV000086686 ; RCV000851984 ; RCV002222388 ; RCV003987361 ; RCV003313778 ; RCV002280868
• dbSNP Id: rs61749376
• ExAC: 12:6128749 C / T
• gnomAD v2: 12-6128749-C-T
• gnomAD v3: 12-6019583-C-T
• gnomAD v4: 12-6019583-C-T
• MyVariant Identifiers: chr12:g.6128749C>T (hg19) ; chr12:g.6019583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019583C>T , CM000674.2:g.6019583C>T	GRCh38
NC_000012.11:g.6128749C>T , CM000674.1:g.6128749C>T	GRCh37
NC_000012.10:g.5999010C>T	NCBI36
NG_009072.1:g.110088G>A
NG_009072.2:g.110088G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3835G>A MANE Select	ENSP00000261405.5:p.Val1279Ile
ENST00000261405.9:c.3835G>A	ENSP00000261405.5:p.Val1279Ile
ENST00000538635.5:n.421-25649G>A
ENST00000539641.1:n.633G>A
NM_000552.3:c.3835G>A	NP_000543.2:p.Val1279Ile
NM_000552.4:c.3835G>A	NP_000543.2:p.Val1279Ile
NM_000552.5:c.3835G>A MANE Select	NP_000543.3:p.Val1279Ile