Canonical Allele Identifier: CA114170
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 314
ClinVar RCV Id: RCV000000342 RCV000086676 RCV000314989 RCV000454456 RCV000853236 RCV002247228 RCV003313771 RCV003924788
dbSNP Id: rs61749370
ExAC: 12:6128787 G / A
gnomAD v2: 12-6128787-G-A
gnomAD v3: 12-6019621-G-A
gnomAD v4: 12-6019621-G-A
COSMIC: COSM3968366
MyVariant Identifiers: chr12:g.6128787G>A (hg19) chr12:g.6019621G>A (hg38)
PubMed: PMID:3259690 PMID:3488775 PMID:8486782 PMID:16889557 PMID:18485763 PMID:18805962 PMID:20409624 PMID:22995991 PMID:24675615 PMID:26827609 PMID:26986123
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019621G>A , CM000674.2:g.6019621G>A GRCh38
NC_000012.11:g.6128787G>A , CM000674.1:g.6128787G>A GRCh37
NC_000012.10:g.5999048G>A NCBI36
NG_009072.1:g.110050C>T
NG_009072.2:g.110050C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3797C>T MANE Select ENSP00000261405.5:p.Pro1266Leu
ENST00000261405.9:c.3797C>T ENSP00000261405.5:p.Pro1266Leu
ENST00000538635.5:n.421-25687C>T
ENST00000539641.1:n.595C>T
NM_000552.3:c.3797C>T NP_000543.2:p.Pro1266Leu
NM_000552.4:c.3797C>T NP_000543.2:p.Pro1266Leu
NM_000552.5:c.3797C>T MANE Select NP_000543.3:p.Pro1266Leu
Search 100 bp 5'
Search 100 bp 3'