Canonical Allele Identifier: CA228496

Gene: VWF

Linked Data

• ClinVar Variation Id: 100307
• ClinVar RCV Id: RCV000086708 ; RCV001250230 ; RCV001787056 ; RCV002280869
• dbSNP Id: rs267607337
• ExAC: 12:6128653 G / A
• gnomAD v2: 12-6128653-G-A
• gnomAD v3: 12-6019487-G-A
• gnomAD v4: 12-6019487-G-A
• MyVariant Identifiers: chr12:g.6128653G>A (hg19) ; chr12:g.6019487G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019487G>A , CM000674.2:g.6019487G>A	GRCh38
NC_000012.11:g.6128653G>A , CM000674.1:g.6128653G>A	GRCh37
NC_000012.10:g.5998914G>A	NCBI36
NG_009072.1:g.110184C>T
NG_009072.2:g.110184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3931C>T MANE Select	ENSP00000261405.5:p.Gln1311Ter
ENST00000261405.9:c.3931C>T	ENSP00000261405.5:p.Gln1311Ter
ENST00000538635.5:n.421-25553C>T
NM_000552.3:c.3931C>T	NP_000543.2:p.Gln1311Ter
NM_000552.4:c.3931C>T	NP_000543.2:p.Gln1311Ter
NM_000552.5:c.3931C>T MANE Select	NP_000543.3:p.Gln1311Ter