Canonical Allele Identifier: CA228573

Gene: VWF

Linked Data

• ClinVar Variation Id: 100346
• ClinVar RCV Id: RCV000086751 ; RCV002227446 ; RCV002498470
• dbSNP Id: rs61750083
• gnomAD v2: 12-6128311-T-A
• gnomAD v4: 12-6019145-T-A
• MyVariant Identifiers: chr12:g.6128311T>A (hg19) ; chr12:g.6019145T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019145T>A , CM000674.2:g.6019145T>A	GRCh38
NC_000012.11:g.6128311T>A , CM000674.1:g.6128311T>A	GRCh37
NC_000012.10:g.5998572T>A	NCBI36
NG_009072.1:g.110526A>T
NG_009072.2:g.110526A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4273A>T MANE Select	ENSP00000261405.5:p.Ile1425Phe
ENST00000261405.9:c.4273A>T	ENSP00000261405.5:p.Ile1425Phe
ENST00000538635.5:n.421-25211A>T
NM_000552.3:c.4273A>T	NP_000543.2:p.Ile1425Phe
NM_000552.4:c.4273A>T	NP_000543.2:p.Ile1425Phe
NM_000552.5:c.4273A>T MANE Select	NP_000543.3:p.Ile1425Phe