Canonical Allele Identifier: CA478100656
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6125280T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016114T>C , CM000674.2:g.6016114T>C GRCh38
NC_000012.11:g.6125280T>C , CM000674.1:g.6125280T>C GRCh37
NC_000012.10:g.5995541T>C NCBI36
NG_009072.1:g.113557A>G
NG_009072.2:g.113557A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5430A>G MANE Select ENSP00000261405.5:p.Ala1810=
ENST00000261405.9:c.5430A>G ENSP00000261405.5:p.Ala1810=
ENST00000538635.5:n.421-22180A>G
NM_000552.3:c.5430A>G NP_000543.2:p.Ala1810=
NM_000552.4:c.5430A>G NP_000543.2:p.Ala1810=
NM_000552.5:c.5430A>G MANE Select NP_000543.3:p.Ala1810=
Search 100 bp 5'
Search 100 bp 3'