Canonical Allele Identifier: CA383505745
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 3061402
ClinVar RCV Id: RCV003983410
MyVariant Identifiers: chr12:g.6128565A>G (hg19) chr12:g.6019399A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019399A>G , CM000674.2:g.6019399A>G GRCh38
NC_000012.11:g.6128565A>G , CM000674.1:g.6128565A>G GRCh37
NC_000012.10:g.5998826A>G NCBI36
NG_009072.1:g.110272T>C
NG_009072.2:g.110272T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4019T>C MANE Select ENSP00000261405.5:p.Leu1340Pro
ENST00000261405.9:c.4019T>C ENSP00000261405.5:p.Leu1340Pro
ENST00000538635.5:n.421-25465T>C
NM_000552.3:c.4019T>C NP_000543.2:p.Leu1340Pro
NM_000552.4:c.4019T>C NP_000543.2:p.Leu1340Pro
NM_000552.5:c.4019T>C MANE Select NP_000543.3:p.Leu1340Pro
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