Canonical Allele Identifier: CA383511905
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 1065299
ClinVar RCV Id: RCV001787217
dbSNP Id: rs2136418333
gnomAD v4: 12-6023650-C-T
MyVariant Identifiers: chr12:g.6132816C>T (hg19) chr12:g.6023650C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023650C>T , CM000674.2:g.6023650C>T GRCh38
NC_000012.11:g.6132816C>T , CM000674.1:g.6132816C>T GRCh37
NC_000012.10:g.6003077C>T NCBI36
NG_009072.1:g.106021G>A
NG_009072.2:g.106021G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3360G>A MANE Select ENSP00000261405.5:p.Trp1120Ter
ENST00000261405.9:c.3360G>A ENSP00000261405.5:p.Trp1120Ter
ENST00000538635.5:n.421-29716G>A
NM_000552.3:c.3360G>A NP_000543.2:p.Trp1120Ter
NM_000552.4:c.3360G>A NP_000543.2:p.Trp1120Ter
NM_000552.5:c.3360G>A MANE Select NP_000543.3:p.Trp1120Ter
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