Canonical Allele Identifier: CA690484019
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1210108192
gnomAD v3: 12-5969002-A-G
gnomAD v4: 12-5969002-A-G
MyVariant Identifiers: chr12:g.6078168A>G (hg19) chr12:g.5969002A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5969002A>G , CM000674.2:g.5969002A>G GRCh38
NC_000012.11:g.6078168A>G , CM000674.1:g.6078168A>G GRCh37
NC_000012.10:g.5948429A>G NCBI36
NG_009072.1:g.160669T>C
NG_009072.2:g.160669T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.7729+209T>C MANE Select ENSP00000261405.5:n.7729+209T>C
ENST00000261405.9:c.7729+209T>C ENSP00000261405.5:n.7729+209T>C
NM_000552.3:c.7729+209T>C NP_000543.2:n.7729+209T>C
NM_000552.4:c.7729+209T>C NP_000543.2:n.7729+209T>C
NM_000552.5:c.7729+209T>C MANE Select NP_000543.3:n.7729+209T>C
Search 100 bp 5'
Search 100 bp 3'