Canonical Allele Identifier: CA6403569
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs377580592
ExAC: 12:6181539 C / T
gnomAD v2: 12-6181539-C-T
gnomAD v3: 12-6072373-C-T
gnomAD v4: 12-6072373-C-T
MyVariant Identifiers: chr12:g.6181539C>T (hg19) chr12:g.6072373C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6072373C>T , CM000674.2:g.6072373C>T GRCh38
NC_000012.11:g.6181539C>T , CM000674.1:g.6181539C>T GRCh37
NC_000012.10:g.6051800C>T NCBI36
NG_009072.1:g.57298G>A
NG_009072.2:g.57298G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1067G>A MANE Select ENSP00000261405.5:p.Arg356His
ENST00000261405.9:c.1067G>A ENSP00000261405.5:p.Arg356His
ENST00000538635.5:n.420+38142G>A
NM_000552.3:c.1067G>A NP_000543.2:p.Arg356His
NM_000552.4:c.1067G>A NP_000543.2:p.Arg356His
NM_000552.5:c.1067G>A MANE Select NP_000543.3:p.Arg356His
Search 100 bp 5'
Search 100 bp 3'