Canonical Allele Identifier: CA383506260
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6128673A>T (hg19) chr12:g.6019507A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019507A>T , CM000674.2:g.6019507A>T GRCh38
NC_000012.11:g.6128673A>T , CM000674.1:g.6128673A>T GRCh37
NC_000012.10:g.5998934A>T NCBI36
NG_009072.1:g.110164T>A
NG_009072.2:g.110164T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3911T>A MANE Select ENSP00000261405.5:p.Met1304Lys
ENST00000261405.9:c.3911T>A ENSP00000261405.5:p.Met1304Lys
ENST00000538635.5:n.421-25573T>A
NM_000552.3:c.3911T>A NP_000543.2:p.Met1304Lys
NM_000552.4:c.3911T>A NP_000543.2:p.Met1304Lys
NM_000552.5:c.3911T>A MANE Select NP_000543.3:p.Met1304Lys
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