Canonical Allele Identifier: CA228729

Gene: VWF

Linked Data

• ClinVar Variation Id: 100432
• ClinVar RCV Id: RCV000086844 ; RCV002264667 ; RCV003478999
• dbSNP Id: rs61753983
• ExAC: 12:6232308 C / T
• gnomAD v2: 12-6232308-C-T
• gnomAD v3: 12-6123142-C-T
• gnomAD v4: 12-6123142-C-T
• MyVariant Identifiers: chr12:g.6232308C>T (hg19) ; chr12:g.6123142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6123142C>T , CM000674.2:g.6123142C>T	GRCh38
NC_000012.11:g.6232308C>T , CM000674.1:g.6232308C>T	GRCh37
NC_000012.10:g.6102569C>T	NCBI36
NG_009072.1:g.6529G>A
NG_009072.2:g.6529G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.55G>A MANE Select	ENSP00000261405.5:p.Gly19Arg
ENST00000261405.9:c.55G>A	ENSP00000261405.5:p.Gly19Arg
ENST00000321023.5:c.55G>A	ENSP00000461331.1:p.Glu19Lys
ENST00000538563.1:c.55G>A	ENSP00000459134.1:p.Glu19Lys
ENST00000538635.5:n.84G>A
ENST00000540192.1:n.300G>A
ENST00000545906.1:n.309G>A
NM_000552.3:c.55G>A	NP_000543.2:p.Gly19Arg
NM_000552.4:c.55G>A	NP_000543.2:p.Gly19Arg
NM_000552.5:c.55G>A MANE Select	NP_000543.3:p.Gly19Arg