Canonical Allele Identifier: CA383512314
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6132934A>G (hg19) chr12:g.6023768A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023768A>G , CM000674.2:g.6023768A>G GRCh38
NC_000012.11:g.6132934A>G , CM000674.1:g.6132934A>G GRCh37
NC_000012.10:g.6003195A>G NCBI36
NG_009072.1:g.105903T>C
NG_009072.2:g.105903T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3242T>C MANE Select ENSP00000261405.5:p.Leu1081Pro
ENST00000261405.9:c.3242T>C ENSP00000261405.5:p.Leu1081Pro
ENST00000538635.5:n.421-29834T>C
NM_000552.3:c.3242T>C NP_000543.2:p.Leu1081Pro
NM_000552.4:c.3242T>C NP_000543.2:p.Leu1081Pro
NM_000552.5:c.3242T>C MANE Select NP_000543.3:p.Leu1081Pro
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