Canonical Allele Identifier: CA2013871557
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1944056474
gnomAD v4: 12-6016289-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016289T>C , CM000674.2:g.6016289T>C GRCh38
NC_000012.11:g.6125455T>C , CM000674.1:g.6125455T>C GRCh37
NC_000012.10:g.5995716T>C NCBI36
NG_009072.1:g.113382A>G
NG_009072.2:g.113382A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5312-57A>G MANE Select ENSP00000261405.5:n.5312-57A>G
ENST00000261405.9:c.5312-57A>G ENSP00000261405.5:n.5312-57A>G
ENST00000538635.5:n.421-22355A>G
NM_000552.3:c.5312-57A>G NP_000543.2:n.5312-57A>G
NM_000552.4:c.5312-57A>G NP_000543.2:n.5312-57A>G
NM_000552.5:c.5312-57A>G MANE Select NP_000543.3:n.5312-57A>G
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