Canonical Allele Identifier: CA383520333
Gene: VWF HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6145582C>T (hg19) chr12:g.6036416C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036416C>T , CM000674.2:g.6036416C>T GRCh38
NC_000012.11:g.6145582C>T , CM000674.1:g.6145582C>T GRCh37
NC_000012.10:g.6015843C>T NCBI36
NG_009072.1:g.93255G>A
NG_009072.2:g.93255G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2518G>A MANE Select ENSP00000261405.5:p.Glu840Lys
ENST00000261405.9:c.2518G>A ENSP00000261405.5:p.Glu840Lys
ENST00000538635.5:n.421-42482G>A
NM_000552.3:c.2518G>A NP_000543.2:p.Glu840Lys
NM_000552.4:c.2518G>A NP_000543.2:p.Glu840Lys
NM_000552.5:c.2518G>A MANE Select NP_000543.3:p.Glu840Lys
Search 100 bp 5'
Search 100 bp 3'