Canonical Allele Identifier: CA6403759

Gene: VWF

Linked Data

• ClinVar Variation Id: 256684
• ClinVar RCV Id: RCV000244211 ; RCV000986077 ; RCV001843502 ; RCV002280875
• dbSNP Id: rs143054357
• ExAC: 12:6204737 C / T
• gnomAD v2: 12-6204737-C-T
• gnomAD v3: 12-6095571-C-T
• gnomAD v4: 12-6095571-C-T
• MyVariant Identifiers: chr12:g.6204737C>T (hg19) ; chr12:g.6095571C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6095571C>T , CM000674.2:g.6095571C>T	GRCh38
NC_000012.11:g.6204737C>T , CM000674.1:g.6204737C>T	GRCh37
NC_000012.10:g.6074998C>T	NCBI36
NG_009072.1:g.34100G>A
NG_009072.2:g.34100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.546G>A MANE Select	ENSP00000261405.5:p.Ser182=
ENST00000261405.9:c.546G>A	ENSP00000261405.5:p.Ser182=
ENST00000321023.5:c.*605G>A	ENSP00000461331.1:n.*605G>A
ENST00000538635.5:n.420+14944G>A
NM_000552.3:c.546G>A	NP_000543.2:p.Ser182=
NM_000552.4:c.546G>A	NP_000543.2:p.Ser182=
NM_000552.5:c.546G>A MANE Select	NP_000543.3:p.Ser182=