Canonical Allele Identifier: CA478502928
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6128663C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019497C>G , CM000674.2:g.6019497C>G GRCh38
NC_000012.11:g.6128663C>G , CM000674.1:g.6128663C>G GRCh37
NC_000012.10:g.5998924C>G NCBI36
NG_009072.1:g.110174G>C
NG_009072.2:g.110174G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3921G>C MANE Select ENSP00000261405.5:p.Leu1307=
ENST00000261405.9:c.3921G>C ENSP00000261405.5:p.Leu1307=
ENST00000538635.5:n.421-25563G>C
NM_000552.3:c.3921G>C NP_000543.2:p.Leu1307=
NM_000552.4:c.3921G>C NP_000543.2:p.Leu1307=
NM_000552.5:c.3921G>C MANE Select NP_000543.3:p.Leu1307=
Search 100 bp 5'
Search 100 bp 3'