Canonical Allele Identifier: CA228810

Gene: VWF

Linked Data

• ClinVar Variation Id: 100480
• ClinVar RCV Id: RCV000086894 ; RCV001787076 ; RCV002225289
• dbSNP Id: rs61751298
• gnomAD v2: 12-6078470-T-A
• gnomAD v3: 12-5969304-T-A
• gnomAD v4: 12-5969304-T-A
• MyVariant Identifiers: chr12:g.6078470T>A (hg19) ; chr12:g.5969304T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5969304T>A , CM000674.2:g.5969304T>A	GRCh38
NC_000012.11:g.6078470T>A , CM000674.1:g.6078470T>A	GRCh37
NC_000012.10:g.5948731T>A	NCBI36
NG_009072.1:g.160367A>T
NG_009072.2:g.160367A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7636A>T MANE Select	ENSP00000261405.5:p.Asn2546Tyr
ENST00000261405.9:c.7636A>T	ENSP00000261405.5:p.Asn2546Tyr
NM_000552.3:c.7636A>T	NP_000543.2:p.Asn2546Tyr
NM_000552.4:c.7636A>T	NP_000543.2:p.Asn2546Tyr
NM_000552.5:c.7636A>T MANE Select	NP_000543.3:p.Asn2546Tyr