Canonical Allele Identifier: CA654076090
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1487280310
gnomAD v2: 12-6140506-G-A
gnomAD v3: 12-6031340-G-A
gnomAD v4: 12-6031340-G-A
COSMIC: COSN26434588
MyVariant Identifiers: chr12:g.6140506G>A (hg19) chr12:g.6031340G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031340G>A , CM000674.2:g.6031340G>A GRCh38
NC_000012.11:g.6140506G>A , CM000674.1:g.6140506G>A GRCh37
NC_000012.10:g.6010767G>A NCBI36
NG_009072.1:g.98331C>T
NG_009072.2:g.98331C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2820+104C>T MANE Select ENSP00000261405.5:n.2820+104C>T
ENST00000261405.9:c.2820+104C>T ENSP00000261405.5:n.2820+104C>T
ENST00000538635.5:n.421-37406C>T
NM_000552.3:c.2820+104C>T NP_000543.2:n.2820+104C>T
NM_000552.4:c.2820+104C>T NP_000543.2:n.2820+104C>T
NM_000552.5:c.2820+104C>T MANE Select NP_000543.3:n.2820+104C>T
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