Canonical Allele Identifier: CA944315150
Gene: VWF HGNC NCBI

Linked Data

gnomAD v3: 12-6058118-G-A
gnomAD v4: 12-6058118-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058118G>A , CM000674.2:g.6058118G>A GRCh38
NC_000012.11:g.6167284G>A , CM000674.1:g.6167284G>A GRCh37
NC_000012.10:g.6037545G>A NCBI36
NG_009072.1:g.71553C>T
NG_009072.2:g.71553C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-74C>T MANE Select ENSP00000261405.5:n.1534-74C>T
ENST00000261405.9:c.1534-74C>T ENSP00000261405.5:n.1534-74C>T
ENST00000538635.5:n.420+52397C>T
NM_000552.3:c.1534-74C>T NP_000543.2:n.1534-74C>T
NM_000552.4:c.1534-74C>T NP_000543.2:n.1534-74C>T
NM_000552.5:c.1534-74C>T MANE Select NP_000543.3:n.1534-74C>T
Search 100 bp 5'
Search 100 bp 3'