Canonical Allele Identifier: CA228314

Gene: VWF

Linked Data

• ClinVar Variation Id: 100208
• ClinVar RCV Id: RCV000086594 ; RCV003147338 ; RCV003992184
• dbSNP Id: rs61748466
• ExAC: 12:6155892 G / A
• gnomAD v2: 12-6155892-G-A
• gnomAD v3: 12-6046726-G-A
• gnomAD v4: 12-6046726-G-A
• COSMIC: COSM5013852
• MyVariant Identifiers: chr12:g.6155892G>A (hg19) ; chr12:g.6046726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6046726G>A , CM000674.2:g.6046726G>A	GRCh38
NC_000012.11:g.6155892G>A , CM000674.1:g.6155892G>A	GRCh37
NC_000012.10:g.6026153G>A	NCBI36
NG_009072.1:g.82945C>T
NG_009072.2:g.82945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2278C>T MANE Select	ENSP00000261405.5:p.Arg760Cys
ENST00000261405.9:c.2278C>T	ENSP00000261405.5:p.Arg760Cys
ENST00000538635.5:n.421-52792C>T
NM_000552.3:c.2278C>T	NP_000543.2:p.Arg760Cys
NM_000552.4:c.2278C>T	NP_000543.2:p.Arg760Cys
NM_000552.5:c.2278C>T MANE Select	NP_000543.3:p.Arg760Cys