Canonical Allele Identifier: CA228569

Gene: VWF

Linked Data

• ClinVar Variation Id: 100344
• ClinVar RCV Id: RCV000086749 ; RCV000852123 ; RCV002243740
• dbSNP Id: rs61750081
• gnomAD v4: 12-6019171-A-T
• MyVariant Identifiers: chr12:g.6128337A>T (hg19) ; chr12:g.6019171A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019171A>T , CM000674.2:g.6019171A>T	GRCh38
NC_000012.11:g.6128337A>T , CM000674.1:g.6128337A>T	GRCh37
NC_000012.10:g.5998598A>T	NCBI36
NG_009072.1:g.110500T>A
NG_009072.2:g.110500T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4247T>A MANE Select	ENSP00000261405.5:p.Ile1416Asn
ENST00000261405.9:c.4247T>A	ENSP00000261405.5:p.Ile1416Asn
ENST00000538635.5:n.421-25237T>A
NM_000552.3:c.4247T>A	NP_000543.2:p.Ile1416Asn
NM_000552.4:c.4247T>A	NP_000543.2:p.Ile1416Asn
NM_000552.5:c.4247T>A MANE Select	NP_000543.3:p.Ile1416Asn