Canonical Allele Identifier: CA383498690
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 1098556
ClinVar RCV Id: RCV001420490
dbSNP Id: rs1944088119
gnomAD v4: 12-6018496-C-T
COSMIC: COSM3464077
MyVariant Identifiers: chr12:g.6127662C>T (hg19) chr12:g.6018496C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018496C>T , CM000674.2:g.6018496C>T GRCh38
NC_000012.11:g.6127662C>T , CM000674.1:g.6127662C>T GRCh37
NC_000012.10:g.5997923C>T NCBI36
NG_009072.1:g.111175G>A
NG_009072.2:g.111175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4922G>A MANE Select ENSP00000261405.5:p.Arg1641Lys
ENST00000261405.9:c.4922G>A ENSP00000261405.5:p.Arg1641Lys
ENST00000538635.5:n.421-24562G>A
NM_000552.3:c.4922G>A NP_000543.2:p.Arg1641Lys
NM_000552.4:c.4922G>A NP_000543.2:p.Arg1641Lys
NM_000552.5:c.4922G>A MANE Select NP_000543.3:p.Arg1641Lys
Search 100 bp 5'
Search 100 bp 3'