Canonical Allele Identifier: CA228819

Gene: VWF

Linked Data

• ClinVar Variation Id: 100487
• ClinVar RCV Id: RCV000086901 ; RCV000765101 ; RCV000851886 ; RCV002225290 ; RCV002225291
• dbSNP Id: rs61751302
• ExAC: 12:6062708 G / A
• gnomAD v2: 12-6062708-G-A
• gnomAD v3: 12-5953542-G-A
• gnomAD v4: 12-5953542-G-A
• COSMIC: COSM357715
• MyVariant Identifiers: chr12:g.6062708G>A (hg19) ; chr12:g.5953542G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5953542G>A , CM000674.2:g.5953542G>A	GRCh38
NC_000012.11:g.6062708G>A , CM000674.1:g.6062708G>A	GRCh37
NC_000012.10:g.5932969G>A	NCBI36
NG_009072.1:g.176129C>T
NG_009072.2:g.176129C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7940C>T MANE Select	ENSP00000261405.5:p.Thr2647Met
ENST00000261405.9:c.7940C>T	ENSP00000261405.5:p.Thr2647Met
ENST00000612016.1:n.349C>T
ENST00000621700.1:n.258C>T
NM_000552.3:c.7940C>T	NP_000543.2:p.Thr2647Met
NM_000552.4:c.7940C>T	NP_000543.2:p.Thr2647Met
NM_000552.5:c.7940C>T MANE Select	NP_000543.3:p.Thr2647Met