Canonical Allele Identifier: CA228713

Gene: VWF

Linked Data

• ClinVar Variation Id: 100425
• ClinVar RCV Id: RCV000086835 ; RCV001787064 ; RCV003156071 ; RCV004549533 ; RCV003447496
• dbSNP Id: rs61750606
• ExAC: 12:6125375 G / A
• gnomAD v2: 12-6125375-G-A
• gnomAD v3: 12-6016209-G-A
• gnomAD v4: 12-6016209-G-A
• MyVariant Identifiers: chr12:g.6125375G>A (hg19) ; chr12:g.6016209G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6016209G>A , CM000674.2:g.6016209G>A	GRCh38
NC_000012.11:g.6125375G>A , CM000674.1:g.6125375G>A	GRCh37
NC_000012.10:g.5995636G>A	NCBI36
NG_009072.1:g.113462C>T
NG_009072.2:g.113462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5335C>T MANE Select	ENSP00000261405.5:p.Arg1779Ter
ENST00000261405.9:c.5335C>T	ENSP00000261405.5:p.Arg1779Ter
ENST00000538635.5:n.421-22275C>T
NM_000552.3:c.5335C>T	NP_000543.2:p.Arg1779Ter
NM_000552.4:c.5335C>T	NP_000543.2:p.Arg1779Ter
NM_000552.5:c.5335C>T MANE Select	NP_000543.3:p.Arg1779Ter