Canonical Allele Identifier: CA228384

Gene: VWF

Linked Data

• ClinVar Variation Id: 100250
• ClinVar RCV Id: RCV000086643 ; RCV003989318
• dbSNP Id: rs267607316
• gnomAD v4: 12-6023778-C-T
• MyVariant Identifiers: chr12:g.6132944C>T (hg19) ; chr12:g.6023778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023778C>T , CM000674.2:g.6023778C>T	GRCh38
NC_000012.11:g.6132944C>T , CM000674.1:g.6132944C>T	GRCh37
NC_000012.10:g.6003205C>T	NCBI36
NG_009072.1:g.105893G>A
NG_009072.2:g.105893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3232G>A MANE Select	ENSP00000261405.5:p.Glu1078Lys
ENST00000261405.9:c.3232G>A	ENSP00000261405.5:p.Glu1078Lys
ENST00000538635.5:n.421-29844G>A
NM_000552.3:c.3232G>A	NP_000543.2:p.Glu1078Lys
NM_000552.4:c.3232G>A	NP_000543.2:p.Glu1078Lys
NM_000552.5:c.3232G>A MANE Select	NP_000543.3:p.Glu1078Lys