Canonical Allele Identifier: CA232299427
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1047408009
MyVariant Identifiers: chr12:g.6145288A>T (hg19) chr12:g.6036122A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036122A>T , CM000674.2:g.6036122A>T GRCh38
NC_000012.11:g.6145288A>T , CM000674.1:g.6145288A>T GRCh37
NC_000012.10:g.6015549A>T NCBI36
NG_009072.1:g.93549T>A
NG_009072.2:g.93549T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+266T>A MANE Select ENSP00000261405.5:n.2546+266T>A
ENST00000261405.9:c.2546+266T>A ENSP00000261405.5:n.2546+266T>A
ENST00000538635.5:n.421-42188T>A
NM_000552.3:c.2546+266T>A NP_000543.2:n.2546+266T>A
NM_000552.4:c.2546+266T>A NP_000543.2:n.2546+266T>A
NM_000552.5:c.2546+266T>A MANE Select NP_000543.3:n.2546+266T>A
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