Canonical Allele Identifier: CA228257

Gene: VWF

Linked Data

• ClinVar Variation Id: 100172
• ClinVar RCV Id: RCV000086556 ; RCV004549525 ; RCV001787040
• dbSNP Id: rs61754003
• gnomAD v4: 12-6072347-G-A
• MyVariant Identifiers: chr12:g.6181513G>A (hg19) ; chr12:g.6072347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6072347G>A , CM000674.2:g.6072347G>A	GRCh38
NC_000012.11:g.6181513G>A , CM000674.1:g.6181513G>A	GRCh37
NC_000012.10:g.6051774G>A	NCBI36
NG_009072.1:g.57324C>T
NG_009072.2:g.57324C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1093C>T MANE Select	ENSP00000261405.5:p.Arg365Ter
ENST00000261405.9:c.1093C>T	ENSP00000261405.5:p.Arg365Ter
ENST00000538635.5:n.420+38168C>T
NM_000552.3:c.1093C>T	NP_000543.2:p.Arg365Ter
NM_000552.4:c.1093C>T	NP_000543.2:p.Arg365Ter
NM_000552.5:c.1093C>T MANE Select	NP_000543.3:p.Arg365Ter