Canonical Allele Identifier: CA654075798
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6023548-C-G
COSMIC: COSN9753025
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023548C>G , CM000674.2:g.6023548C>G GRCh38
NC_000012.11:g.6132714C>G , CM000674.1:g.6132714C>G GRCh37
NC_000012.10:g.6002975C>G NCBI36
NG_009072.1:g.106123G>C
NG_009072.2:g.106123G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3379+83G>C MANE Select ENSP00000261405.5:n.3379+83G>C
ENST00000261405.9:c.3379+83G>C ENSP00000261405.5:n.3379+83G>C
ENST00000538635.5:n.421-29614G>C
NM_000552.3:c.3379+83G>C NP_000543.2:n.3379+83G>C
NM_000552.4:c.3379+83G>C NP_000543.2:n.3379+83G>C
NM_000552.5:c.3379+83G>C MANE Select NP_000543.3:n.3379+83G>C
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