Canonical Allele Identifier: CA114145

Gene: VWF

Linked Data

• ClinVar Variation Id: 299
• ClinVar RCV Id: RCV000000326 ; RCV000086892 ; RCV002227438 ; RCV002264634
• dbSNP Id: rs61751296
• ExAC: 12:6078503 G / A
• gnomAD v2: 12-6078503-G-A
• gnomAD v3: 12-5969337-G-A
• gnomAD v4: 12-5969337-G-A
• MyVariant Identifiers: chr12:g.6078503G>A (hg19) ; chr12:g.5969337G>A (hg38)
• PubMed: PMID:1415226

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5969337G>A , CM000674.2:g.5969337G>A	GRCh38
NC_000012.11:g.6078503G>A , CM000674.1:g.6078503G>A	GRCh37
NC_000012.10:g.5948764G>A	NCBI36
NG_009072.1:g.160334C>T
NG_009072.2:g.160334C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7603C>T MANE Select	ENSP00000261405.5:p.Arg2535Ter
ENST00000261405.9:c.7603C>T	ENSP00000261405.5:p.Arg2535Ter
NM_000552.3:c.7603C>T	NP_000543.2:p.Arg2535Ter
NM_000552.4:c.7603C>T	NP_000543.2:p.Arg2535Ter
NM_000552.5:c.7603C>T MANE Select	NP_000543.3:p.Arg2535Ter