Canonical Allele Identifier: CA16132170
Gene: CHL1-AS2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.149364G>A
GRCh37 chr3:g.191047G>A
gnomAD v2:
3:191047 G / A
gnomAD v3:
3:149364 G / A
gnomAD v4:
chr3-149364-G-A
Joint Max Group AF 0.47060713 (EAS)
Genomes Max Group AF 0.47060713 (EAS)
dbSNP:
10510181
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149364G>A , CM000665.2:g.149364G>A GRCh38
NC_000003.11:g.191047G>A , CM000665.1:g.191047G>A GRCh37
NC_000003.10:g.166047G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_940536.1:n.121+13865C>T
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