Canonical Allele Identifier: CA2687736
Gene: ARL14 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.160677487C>A
GRCh37 chr3:g.160395275C>A
Revel Score:
ENST00000320767 (MANE Select) 0.725
gnomAD v2:
3:160395275 C / A
gnomAD v3:
3:160677487 C / A
gnomAD v4:
chr3-160677487-C-A
Joint Max Group AF 7.9e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV004178164
ClinVar Variation:
2337545
dbSNP:
747570888
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.160677487C>A , CM000665.2:g.160677487C>A GRCh38
NC_000003.11:g.160395275C>A , CM000665.1:g.160395275C>A GRCh37
NC_000003.10:g.161877969C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000320767.4:c.141C>A MANE Select ENSP00000323847.2:p.Phe47Leu
ENST00000320767.3:c.141C>A ENSP00000323847.2:p.Phe47Leu
NM_025047.2:c.141C>A NP_079323.1:p.Phe47Leu
NM_025047.3:c.141C>A MANE Select NP_079323.1:p.Phe47Leu
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