Canonical Allele Identifier: CA383495622
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6016202-A-C
MyVariant Identifiers: chr12:g.6125368A>C (hg19) chr12:g.6016202A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016202A>C , CM000674.2:g.6016202A>C GRCh38
NC_000012.11:g.6125368A>C , CM000674.1:g.6125368A>C GRCh37
NC_000012.10:g.5995629A>C NCBI36
NG_009072.1:g.113469T>G
NG_009072.2:g.113469T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5342T>G MANE Select ENSP00000261405.5:p.Leu1781Trp
ENST00000261405.9:c.5342T>G ENSP00000261405.5:p.Leu1781Trp
ENST00000538635.5:n.421-22268T>G
NM_000552.3:c.5342T>G NP_000543.2:p.Leu1781Trp
NM_000552.4:c.5342T>G NP_000543.2:p.Leu1781Trp
NM_000552.5:c.5342T>G MANE Select NP_000543.3:p.Leu1781Trp
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