Canonical Allele Identifier: CA243723

Gene: VWF

Linked Data

• ClinVar Variation Id: 196665
• ClinVar RCV Id: RCV000177518 ; RCV000330483
• dbSNP Id: rs551649729
• gnomAD v2: 12-6125341-G-A
• gnomAD v3: 12-6016175-G-A
• gnomAD v4: 12-6016175-G-A
• COSMIC: COSM5498050
• MyVariant Identifiers: chr12:g.6125341G>A (hg19) ; chr12:g.6016175G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6016175G>A , CM000674.2:g.6016175G>A	GRCh38
NC_000012.11:g.6125341G>A , CM000674.1:g.6125341G>A	GRCh37
NC_000012.10:g.5995602G>A	NCBI36
NG_009072.1:g.113496C>T
NG_009072.2:g.113496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5369C>T MANE Select	ENSP00000261405.5:p.Pro1790Leu
ENST00000261405.9:c.5369C>T	ENSP00000261405.5:p.Pro1790Leu
ENST00000538635.5:n.421-22241C>T
NM_000552.3:c.5369C>T	NP_000543.2:p.Pro1790Leu
NM_000552.4:c.5369C>T	NP_000543.2:p.Pro1790Leu
NM_000552.5:c.5369C>T MANE Select	NP_000543.3:p.Pro1790Leu