Canonical Allele Identifier: CA199157
Gene: CNGA3 HGNC NCBI
ClinVar RCV:
RCV000010084
RCV000169654
RCV001002972
RCV001074603
RCV001219847
RCV002512958
ClinVar Variation:
9476
dbSNP:
104893615
gnomAD v2:
2:99013302 G / A
gnomAD v3:
2:98396839 G / A
gnomAD v4:
chr2-98396839-G-A
Joint Max Group AF 0.00002255 (AMR)
Exomes Max Group AF 0.00001779 (AMR)
MyVariant.info:
GRCh38 chr2:g.98396839G>A
GRCh37 chr2:g.99013302G>A
Revel Score:
ENST00000393504 0.965
ENST00000436404 0.965
ENST00000272602 (MANE Select) 0.965
ENST00000409937 0.965
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396839G>A , CM000664.2:g.98396839G>A GRCh38
NC_000002.11:g.99013302G>A , CM000664.1:g.99013302G>A GRCh37
NC_000002.10:g.98379734G>A NCBI36
NG_009097.1:g.55685G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.1669G>A MANE Select ENSP00000272602.2:p.Gly557Arg
ENST00000272602.6:c.1669G>A ENSP00000272602.2:p.Gly557Arg
ENST00000393504.5:c.1669G>A ENSP00000377140.1:p.Gly557Arg
ENST00000409937.1:c.1681G>A ENSP00000386761.1:p.Gly561Arg
ENST00000436404.6:c.1615G>A ENSP00000410070.2:p.Gly539Arg
NM_001079878.1:c.1615G>A NP_001073347.1:p.Gly539Arg
NM_001298.2:c.1669G>A NP_001289.1:p.Gly557Arg
XM_006712243.2:c.1780G>A XP_006712306.1:p.Gly594Arg
XM_011510554.1:c.1834G>A XP_011508856.1:p.Gly612Arg
XM_011510554.2:c.1834G>A XP_011508856.1:p.Gly612Arg
NM_001079878.2:c.1615G>A NP_001073347.1:p.Gly539Arg
NM_001298.3:c.1669G>A MANE Select NP_001289.1:p.Gly557Arg
Search 100 bp 5'
Search 100 bp 3'