Canonical Allele Identifier: CA114129

Gene: VWF

Linked Data

• ClinVar Variation Id: 291
• ClinVar RCV Id: RCV000000315 ; RCV000086721 ; RCV002227435 ; RCV002243605 ; RCV004547443
• dbSNP Id: rs61749403
• gnomAD v2: 12-6128562-C-T
• gnomAD v4: 12-6019396-C-T
• MyVariant Identifiers: chr12:g.6128562C>T (hg19) ; chr12:g.6019396C>T (hg38)
• PubMed: PMID:1672694 ; PMID:20409624
• ERepo: CA114129/MONDO:0015629/081

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019396C>T , CM000674.2:g.6019396C>T	GRCh38
NC_000012.11:g.6128562C>T , CM000674.1:g.6128562C>T	GRCh37
NC_000012.10:g.5998823C>T	NCBI36
NG_009072.1:g.110275G>A
NG_009072.2:g.110275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4022G>A MANE Select	ENSP00000261405.5:p.Arg1341Gln
ENST00000261405.9:c.4022G>A	ENSP00000261405.5:p.Arg1341Gln
ENST00000538635.5:n.421-25462G>A
NM_000552.3:c.4022G>A	NP_000543.2:p.Arg1341Gln
NM_000552.4:c.4022G>A	NP_000543.2:p.Arg1341Gln
NM_000552.5:c.4022G>A MANE Select	NP_000543.3:p.Arg1341Gln