Canonical Allele Identifier: CA6403022

Gene: VWF

Linked Data

• dbSNP Id: rs216321
• ExAC: 12:6143984 T / C
• gnomAD v2: 12-6143984-T-C
• gnomAD v3: 12-6034818-T-C
• gnomAD v4: 12-6034818-T-C
• MyVariant Identifiers: chr12:g.6143984T>C (hg19) ; chr12:g.6034818T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6034818T>C , CM000674.2:g.6034818T>C	GRCh38
NC_000012.11:g.6143984T>C , CM000674.1:g.6143984T>C	GRCh37
NC_000012.10:g.6014245T>C	NCBI36
NG_009072.2:g.94853A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261405.10:c.2555A>G MANE Select	ENSP00000261405.5:p.Gln852Arg
ENST00000261405.9:c.2555A>G	ENSP00000261405.5:p.Gln852Arg
ENST00000538635.5:n.421-40884A>G
NM_000552.5:c.2555A>G MANE Select	NP_000543.3:p.Gln852Arg