Canonical Allele Identifier: CA10584691
Gene: LDLR-AS1 HGNC NCBI
ClinGen Evidence Repository:
Classification Benign
Condition hypercholesterolemia, familial
VCEP Familial Hypercholesterolemia VCEP
MyVariant.info:
GRCh38 chr19:g.11089332C>T
GRCh37 chr19:g.11200008C>T
gnomAD v2:
19:11200008 C / T
gnomAD v3:
19:11089332 C / T
gnomAD v4:
chr19-11089332-C-T
Joint Max Group AF 0.00943632 (AFR)
Genomes Max Group AF 0.00961444 (AFR)
Exomes Max Group AF 0.00751517 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11089332C>T , CM000681.2:g.11089332C>T GRCh38
NC_000019.9:g.11200008C>T , CM000681.1:g.11200008C>T GRCh37
NC_000019.8:g.11061008C>T NCBI36
NG_009060.1:g.4952C>T , LRG_274:g.4952C>T

Transcript Alleles

HGVS Amino-acid Change
NR_163945.1:n.328G>A
Search 100 bp 5'
Search 100 bp 3'