Canonical Allele Identifier: CA114139
Gene: VWF HGNC NCBI

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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'