Canonical Allele Identifier: CA114156
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 305
ClinVar RCV Id: RCV000000332 RCV000086570
dbSNP Id: rs61754011
gnomAD v4: 12-6057930-C-T
COSMIC: COSM1270331
MyVariant Identifiers: chr12:g.6167096C>T (hg19) chr12:g.6057930C>T (hg38)
PubMed: PMID:7789955 PMID:16889557
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057930C>T , CM000674.2:g.6057930C>T GRCh38
NC_000012.11:g.6167096C>T , CM000674.1:g.6167096C>T GRCh37
NC_000012.10:g.6037357C>T NCBI36
NG_009072.1:g.71741G>A
NG_009072.2:g.71741G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.1648G>A MANE Select ENSP00000261405.5:p.Gly550Arg
ENST00000261405.9:c.1648G>A ENSP00000261405.5:p.Gly550Arg
ENST00000538635.5:n.420+52585G>A
NM_000552.3:c.1648G>A NP_000543.2:p.Gly550Arg
NM_000552.4:c.1648G>A NP_000543.2:p.Gly550Arg
NM_000552.5:c.1648G>A MANE Select NP_000543.3:p.Gly550Arg
Search 100 bp 5'
Search 100 bp 3'