Canonical Allele Identifier: CA114143

Gene: VWF

Linked Data

• ClinVar Variation Id: 298
• ClinVar RCV Id: RCV000000325 ; RCV000000324 ; RCV000086843 ; RCV000851820 ; RCV001813924 ; RCV003447467 ; RCV004547446
• dbSNP Id: rs61750612
• ExAC: 12:6122710 G / A
• gnomAD v2: 12-6122710-G-A
• gnomAD v3: 12-6013544-G-A
• gnomAD v4: 12-6013544-G-A
• MyVariant Identifiers: chr12:g.6122710G>A (hg19) ; chr12:g.6013544G>A (hg38)
• PubMed: PMID:1415226

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6013544G>A , CM000674.2:g.6013544G>A	GRCh38
NC_000012.11:g.6122710G>A , CM000674.1:g.6122710G>A	GRCh37
NC_000012.10:g.5992971G>A	NCBI36
NG_009072.1:g.116127C>T
NG_009072.2:g.116127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5557C>T MANE Select	ENSP00000261405.5:p.Arg1853Ter
ENST00000261405.9:c.5557C>T	ENSP00000261405.5:p.Arg1853Ter
ENST00000538635.5:n.421-19610C>T
NM_000552.3:c.5557C>T	NP_000543.2:p.Arg1853Ter
NM_000552.4:c.5557C>T	NP_000543.2:p.Arg1853Ter
NM_000552.5:c.5557C>T MANE Select	NP_000543.3:p.Arg1853Ter