Canonical Allele Identifier: CA232281574
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs764056758
gnomAD v2: 12-6078161-G-A
gnomAD v3: 12-5968995-G-A
gnomAD v4: 12-5968995-G-A
MyVariant Identifiers: chr12:g.6078161G>A (hg19) chr12:g.5968995G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5968995G>A , CM000674.2:g.5968995G>A GRCh38
NC_000012.11:g.6078161G>A , CM000674.1:g.6078161G>A GRCh37
NC_000012.10:g.5948422G>A NCBI36
NG_009072.1:g.160676C>T
NG_009072.2:g.160676C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.7729+216C>T MANE Select ENSP00000261405.5:n.7729+216C>T
ENST00000261405.9:c.7729+216C>T ENSP00000261405.5:n.7729+216C>T
NM_000552.3:c.7729+216C>T NP_000543.2:n.7729+216C>T
NM_000552.4:c.7729+216C>T NP_000543.2:n.7729+216C>T
NM_000552.5:c.7729+216C>T MANE Select NP_000543.3:n.7729+216C>T
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