Canonical Allele Identifier: CA383512217
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6023724-C-A
MyVariant Identifiers: chr12:g.6132890C>A (hg19) chr12:g.6023724C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023724C>A , CM000674.2:g.6023724C>A GRCh38
NC_000012.11:g.6132890C>A , CM000674.1:g.6132890C>A GRCh37
NC_000012.10:g.6003151C>A NCBI36
NG_009072.1:g.105947G>T
NG_009072.2:g.105947G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3286G>T MANE Select ENSP00000261405.5:p.Asp1096Tyr
ENST00000261405.9:c.3286G>T ENSP00000261405.5:p.Asp1096Tyr
ENST00000538635.5:n.421-29790G>T
NM_000552.3:c.3286G>T NP_000543.2:p.Asp1096Tyr
NM_000552.4:c.3286G>T NP_000543.2:p.Asp1096Tyr
NM_000552.5:c.3286G>T MANE Select NP_000543.3:p.Asp1096Tyr
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