Canonical Allele Identifier: CA114139

Gene: VWF

Linked Data

• ClinVar Variation Id: 296
• ClinVar RCV Id: RCV000000320 ; RCV000000321 ; RCV000086620 ; RCV000169683 ; RCV000336497 ; RCV000762901 ; RCV000851593 ; RCV001270529 ; RCV004547445 ; RCV003987302
• dbSNP Id: rs41276738
• ExAC: 12:6143978 C / T
• gnomAD v2: 12-6143978-C-T
• gnomAD v3: 12-6034812-C-T
• gnomAD v4: 12-6034812-C-T
• MyVariant Identifiers: chr12:g.6143978C>T (hg19) ; chr12:g.6034812C>T (hg38)
• ERepo: CA114139/MONDO:0015631/090
• PubMed: PMID:1581215 ; PMID:1832934 ; PMID:1906877 ; PMID:1918030 ; PMID:8500791 ; PMID:15461624 ; PMID:16953269 ; PMID:16985174 ; PMID:20409624 ; PMID:21371195 ; PMID:22197721 ; PMID:22875612 ; PMID:23426949 ; PMID:23636243 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6034812C>T , CM000674.2:g.6034812C>T	GRCh38
NC_000012.11:g.6143978C>T , CM000674.1:g.6143978C>T	GRCh37
NC_000012.10:g.6014239C>T	NCBI36
NG_009072.1:g.94859G>A
NG_009072.2:g.94859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2561G>A MANE Select	ENSP00000261405.5:p.Arg854Gln
ENST00000261405.9:c.2561G>A	ENSP00000261405.5:p.Arg854Gln
ENST00000538635.5:n.421-40878G>A
NM_000552.3:c.2561G>A	NP_000543.2:p.Arg854Gln
NM_000552.4:c.2561G>A	NP_000543.2:p.Arg854Gln
NM_000552.5:c.2561G>A MANE Select	NP_000543.3:p.Arg854Gln