Canonical Allele Identifier: CA232298116
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1002438894
MyVariant Identifiers: chr12:g.6132886C>T (hg19) chr12:g.6023720C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023720C>T , CM000674.2:g.6023720C>T GRCh38
NC_000012.11:g.6132886C>T , CM000674.1:g.6132886C>T GRCh37
NC_000012.10:g.6003147C>T NCBI36
NG_009072.1:g.105951G>A
NG_009072.2:g.105951G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3290G>A MANE Select ENSP00000261405.5:p.Cys1097Tyr
ENST00000261405.9:c.3290G>A ENSP00000261405.5:p.Cys1097Tyr
ENST00000538635.5:n.421-29786G>A
NM_000552.3:c.3290G>A NP_000543.2:p.Cys1097Tyr
NM_000552.4:c.3290G>A NP_000543.2:p.Cys1097Tyr
NM_000552.5:c.3290G>A MANE Select NP_000543.3:p.Cys1097Tyr
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