Canonical Allele Identifier: CA6401378

Gene: VWF

Linked Data

• ClinVar Variation Id: 256704
• ClinVar RCV Id: RCV000253249
• dbSNP Id: rs2270151
• ExAC: 12:6060960 G / A
• gnomAD v2: 12-6060960-G-A
• gnomAD v3: 12-5951794-G-A
• gnomAD v4: 12-5951794-G-A
• MyVariant Identifiers: chr12:g.6060960G>A (hg19) ; chr12:g.5951794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5951794G>A , CM000674.2:g.5951794G>A	GRCh38
NC_000012.11:g.6060960G>A , CM000674.1:g.6060960G>A	GRCh37
NC_000012.10:g.5931221G>A	NCBI36
NG_009072.1:g.177877C>T
NG_009072.2:g.177877C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.8155+50C>T MANE Select	ENSP00000261405.5:n.8155+50C>T
ENST00000261405.9:c.8155+50C>T	ENSP00000261405.5:n.8155+50C>T
NM_000552.3:c.8155+50C>T	NP_000543.2:n.8155+50C>T
NM_000552.4:c.8155+50C>T	NP_000543.2:n.8155+50C>T
NM_000552.5:c.8155+50C>T MANE Select	NP_000543.3:n.8155+50C>T