Canonical Allele Identifier: CA305287212
Gene: LDLR-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430740
ClinVar RCV Id: RCV000495906 RCV001192182
dbSNP Id: rs989307060
gnomAD v3: 19-11089263-C-G
gnomAD v4: 19-11089263-C-G
MyVariant Identifiers: chr19:g.11199939C>G (hg19) chr19:g.11089263C>G (hg38)
ERepo: CA305287212/MONDO:0007750/013
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089263C>G , CM000681.2:g.11089263C>G GRCh38
NC_000019.9:g.11199939C>G , CM000681.1:g.11199939C>G GRCh37
NC_000019.8:g.11060939C>G NCBI36
NG_009060.1:g.4883C>G , LRG_274:g.4883C>G

Transcript Alleles

HGVS Amino-acid Change
NR_163945.1:n.397G>C
Search 100 bp 5'
Search 100 bp 3'