Canonical Allele Identifier: CA254823
Gene: CNGA3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.98396811C>A
GRCh37 chr2:g.99013274C>A
Revel Score:
ENST00000393504 0.925
ENST00000436404 0.925
ENST00000272602 (MANE Select) 0.925
ENST00000409937 0.925
gnomAD v2:
2:99013274 C / A
gnomAD v3:
2:98396811 C / A
gnomAD v4:
chr2-98396811-C-A
Joint Max Group AF 0.00043655 (SAS)
Genomes Max Group AF 0.00011227 (NFE)
Exomes Max Group AF 0.00044081 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396811C>A , CM000664.2:g.98396811C>A GRCh38
NC_000002.11:g.99013274C>A , CM000664.1:g.99013274C>A GRCh37
NC_000002.10:g.98379706C>A NCBI36
NG_009097.1:g.55657C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.1641C>A MANE Select ENSP00000272602.2:p.Phe547Leu
ENST00000272602.6:c.1641C>A ENSP00000272602.2:p.Phe547Leu
ENST00000393504.5:c.1641C>A ENSP00000377140.1:p.Phe547Leu
ENST00000409937.1:c.1653C>A ENSP00000386761.1:p.Phe551Leu
ENST00000436404.6:c.1587C>A ENSP00000410070.2:p.Phe529Leu
NM_001079878.1:c.1587C>A NP_001073347.1:p.Phe529Leu
NM_001298.2:c.1641C>A NP_001289.1:p.Phe547Leu
XM_006712243.2:c.1752C>A XP_006712306.1:p.Phe584Leu
XM_011510554.1:c.1806C>A XP_011508856.1:p.Phe602Leu
XM_011510554.2:c.1806C>A XP_011508856.1:p.Phe602Leu
NM_001079878.2:c.1587C>A NP_001073347.1:p.Phe529Leu
NM_001298.3:c.1641C>A MANE Select NP_001289.1:p.Phe547Leu
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