Canonical Allele Identifier: CA383498466
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 1098555
ClinVar RCV Id: RCV001420489
dbSNP Id: rs1242618824
gnomAD v2: 12-6127555-T-C
gnomAD v4: 12-6018389-T-C
MyVariant Identifiers: chr12:g.6127555T>C (hg19) chr12:g.6018389T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018389T>C , CM000674.2:g.6018389T>C GRCh38
NC_000012.11:g.6127555T>C , CM000674.1:g.6127555T>C GRCh37
NC_000012.10:g.5997816T>C NCBI36
NG_009072.1:g.111282A>G
NG_009072.2:g.111282A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5029A>G MANE Select ENSP00000261405.5:p.Ile1677Val
ENST00000261405.9:c.5029A>G ENSP00000261405.5:p.Ile1677Val
ENST00000538635.5:n.421-24455A>G
NM_000552.3:c.5029A>G NP_000543.2:p.Ile1677Val
NM_000552.4:c.5029A>G NP_000543.2:p.Ile1677Val
NM_000552.5:c.5029A>G MANE Select NP_000543.3:p.Ile1677Val
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