Canonical Allele Identifier: CA6401585

Gene: VWF

Linked Data

• ClinVar Variation Id: 310040
• ClinVar RCV Id: RCV000314885 ; RCV003477884
• dbSNP Id: rs16932285
• ExAC: 12:6078408 C / T
• gnomAD v2: 12-6078408-C-T
• gnomAD v3: 12-5969242-C-T
• gnomAD v4: 12-5969242-C-T
• MyVariant Identifiers: chr12:g.6078408C>T (hg19) ; chr12:g.5969242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5969242C>T , CM000674.2:g.5969242C>T	GRCh38
NC_000012.11:g.6078408C>T , CM000674.1:g.6078408C>T	GRCh37
NC_000012.10:g.5948669C>T	NCBI36
NG_009072.1:g.160429G>A
NG_009072.2:g.160429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7698G>A MANE Select	ENSP00000261405.5:p.Lys2566=
ENST00000261405.9:c.7698G>A	ENSP00000261405.5:p.Lys2566=
NM_000552.3:c.7698G>A	NP_000543.2:p.Lys2566=
NM_000552.4:c.7698G>A	NP_000543.2:p.Lys2566=
NM_000552.5:c.7698G>A MANE Select	NP_000543.3:p.Lys2566=