Canonical Allele Identifier: CA114117

Gene: VWF

Linked Data

• ClinVar Variation Id: 285
• ClinVar RCV Id: RCV000000309 ; RCV000086797 ; RCV000623564 ; RCV000999877 ; RCV000851942 ; RCV002243603
• dbSNP Id: rs61750117
• gnomAD v4: 12-6018629-G-A
• COSMIC: COSM1178585
• MyVariant Identifiers: chr12:g.6127795G>A (hg19) ; chr12:g.6018629G>A (hg38)
• ERepo: CA114117/MONDO:0015628/081
• PubMed: PMID:2563148 ; PMID:2786201 ; PMID:3495304 ; PMID:11686102 ; PMID:16634745 ; PMID:16862529 ; PMID:16889557 ; PMID:16985174 ; PMID:17190853 ; PMID:19372260 ; PMID:20409624 ; PMID:22197721 ; PMID:23401897 ; PMID:24319188 ; PMID:26288715

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018629G>A , CM000674.2:g.6018629G>A	GRCh38
NC_000012.11:g.6127795G>A , CM000674.1:g.6127795G>A	GRCh37
NC_000012.10:g.5998056G>A	NCBI36
NG_009072.1:g.111042C>T
NG_009072.2:g.111042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4789C>T MANE Select	ENSP00000261405.5:p.Arg1597Trp
ENST00000261405.9:c.4789C>T	ENSP00000261405.5:p.Arg1597Trp
ENST00000538635.5:n.421-24695C>T
NM_000552.3:c.4789C>T	NP_000543.2:p.Arg1597Trp
NM_000552.4:c.4789C>T	NP_000543.2:p.Arg1597Trp
NM_000552.5:c.4789C>T MANE Select	NP_000543.3:p.Arg1597Trp