Canonical Allele Identifier: CA6403090

Gene: VWF

Linked Data

• ClinVar Variation Id: 256659
• ClinVar RCV Id: RCV002243964 ; RCV002243965 ; RCV002243966
• dbSNP Id: rs1063856
• ExAC: 12:6153534 T / C
• gnomAD v2: 12-6153534-T-C
• gnomAD v3: 12-6044368-T-C
• gnomAD v4: 12-6044368-T-C
• MyVariant Identifiers: chr12:g.6153534T>C (hg19) ; chr12:g.6044368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6044368T>C , CM000674.2:g.6044368T>C	GRCh38
NC_000012.11:g.6153534T>C , CM000674.1:g.6153534T>C	GRCh37
NC_000012.10:g.6023795T>C	NCBI36
NG_009072.1:g.85303A>G
NG_009072.2:g.85303A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.2365A>G MANE Select	ENSP00000261405.5:p.Thr789Ala
ENST00000261405.9:c.2365A>G	ENSP00000261405.5:p.Thr789Ala
ENST00000538635.5:n.421-50434A>G
NM_000552.3:c.2365A>G	NP_000543.2:p.Thr789Ala
NM_000552.4:c.2365A>G	NP_000543.2:p.Thr789Ala
NM_000552.5:c.2365A>G MANE Select	NP_000543.3:p.Thr789Ala