Canonical Allele Identifier: CA944315198
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1944611306
gnomAD v3: 12-6058144-C-CG
gnomAD v4: 12-6058144-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058147dup , CM000674.2:g.6058147dup GRCh38
NC_000012.11:g.6167313dup , CM000674.1:g.6167313dup GRCh37
NC_000012.10:g.6037574dup NCBI36
NG_009072.1:g.71526dup
NG_009072.2:g.71526dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1534-101dup MANE Select ENSP00000261405.5:n.1534-101dup
ENST00000261405.9:c.1534-101dup ENSP00000261405.5:n.1534-101dup
ENST00000538635.5:n.420+52370dup
NM_000552.3:c.1534-101dup NP_000543.2:n.1534-101dup
NM_000552.4:c.1534-101dup NP_000543.2:n.1534-101dup
NM_000552.5:c.1534-101dup MANE Select NP_000543.3:n.1534-101dup
Search 100 bp 5'
Search 100 bp 3'