Canonical Allele Identifier: CA228555

Gene: VWF

Linked Data

• ClinVar Variation Id: 100337
• ClinVar RCV Id: RCV000086742 ; RCV000852119 ; RCV002222017
• dbSNP Id: rs61750077
• ExAC: 12:6128389 G / A
• gnomAD v2: 12-6128389-G-A
• gnomAD v3: 12-6019223-G-A
• gnomAD v4: 12-6019223-G-A
• MyVariant Identifiers: chr12:g.6128389G>A (hg19) ; chr12:g.6019223G>A (hg38)
• ERepo: CA228555/MONDO:0015630/081

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019223G>A , CM000674.2:g.6019223G>A	GRCh38
NC_000012.11:g.6128389G>A , CM000674.1:g.6128389G>A	GRCh37
NC_000012.10:g.5998650G>A	NCBI36
NG_009072.1:g.110448C>T
NG_009072.2:g.110448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4195C>T MANE Select	ENSP00000261405.5:p.Arg1399Cys
ENST00000261405.9:c.4195C>T	ENSP00000261405.5:p.Arg1399Cys
ENST00000538635.5:n.421-25289C>T
NM_000552.3:c.4195C>T	NP_000543.2:p.Arg1399Cys
NM_000552.4:c.4195C>T	NP_000543.2:p.Arg1399Cys
NM_000552.5:c.4195C>T MANE Select	NP_000543.3:p.Arg1399Cys