Canonical Allele Identifier: CA114115
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 284
ClinVar RCV Id: RCV000000308 RCV000086808 RCV000778377 RCV002243602
dbSNP Id: rs61750584
gnomAD v4: 12-6018535-A-G
MyVariant Identifiers: chr12:g.6127701A>G (hg19) chr12:g.6018535A>G (hg38)
PubMed: PMID:1673047 PMID:2385594 PMID:20409624
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018535A>G , CM000674.2:g.6018535A>G GRCh38
NC_000012.11:g.6127701A>G , CM000674.1:g.6127701A>G GRCh37
NC_000012.10:g.5997962A>G NCBI36
NG_009072.1:g.111136T>C
NG_009072.2:g.111136T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4883T>C MANE Select ENSP00000261405.5:p.Ile1628Thr
ENST00000261405.9:c.4883T>C ENSP00000261405.5:p.Ile1628Thr
ENST00000538635.5:n.421-24601T>C
NM_000552.3:c.4883T>C NP_000543.2:p.Ile1628Thr
NM_000552.4:c.4883T>C NP_000543.2:p.Ile1628Thr
NM_000552.5:c.4883T>C MANE Select NP_000543.3:p.Ile1628Thr
Search 100 bp 5'
Search 100 bp 3'