Canonical Allele Identifier: CA228510

Gene: VWF

Linked Data

• ClinVar Variation Id: 100314
• ClinVar RCV Id: RCV000086718 ; RCV002243734 ; RCV002222015
• dbSNP Id: rs61749400
• ExAC: 12:6128574 G / A
• gnomAD v2: 12-6128574-G-A
• gnomAD v4: 12-6019408-G-A
• COSMIC: COSM6379181
• MyVariant Identifiers: chr12:g.6128574G>A (hg19) ; chr12:g.6019408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019408G>A , CM000674.2:g.6019408G>A	GRCh38
NC_000012.11:g.6128574G>A , CM000674.1:g.6128574G>A	GRCh37
NC_000012.10:g.5998835G>A	NCBI36
NG_009072.1:g.110263C>T
NG_009072.2:g.110263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4010C>T MANE Select	ENSP00000261405.5:p.Pro1337Leu
ENST00000261405.9:c.4010C>T	ENSP00000261405.5:p.Pro1337Leu
ENST00000538635.5:n.421-25474C>T
NM_000552.3:c.4010C>T	NP_000543.2:p.Pro1337Leu
NM_000552.4:c.4010C>T	NP_000543.2:p.Pro1337Leu
NM_000552.5:c.4010C>T MANE Select	NP_000543.3:p.Pro1337Leu