Canonical Allele Identifier: CA254826
Gene: CNGA3 HGNC NCBI
ClinVar RCV:
RCV000010088
RCV000352391
RCV001002968
ClinVar Variation:
9480
COSMIC:
COSM77490
dbSNP:
104893619
gnomAD v2:
2:99013218 G / A
gnomAD v3:
2:98396755 G / A
gnomAD v4:
chr2-98396755-G-A
Joint Max Group AF 0.00008996 (AMR)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00012058 (AMR)
MyVariant.info:
GRCh38 chr2:g.98396755G>A
GRCh37 chr2:g.99013218G>A
Revel Score:
ENST00000393504 0.947
ENST00000436404 0.947
ENST00000272602 (MANE Select) 0.947
ENST00000409937 0.947
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396755G>A , CM000664.2:g.98396755G>A GRCh38
NC_000002.11:g.99013218G>A , CM000664.1:g.99013218G>A GRCh37
NC_000002.10:g.98379650G>A NCBI36
NG_009097.1:g.55601G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.1585G>A MANE Select ENSP00000272602.2:p.Val529Met
ENST00000272602.6:c.1585G>A ENSP00000272602.2:p.Val529Met
ENST00000393504.5:c.1585G>A ENSP00000377140.1:p.Val529Met
ENST00000409937.1:c.1597G>A ENSP00000386761.1:p.Val533Met
ENST00000436404.6:c.1531G>A ENSP00000410070.2:p.Val511Met
NM_001079878.1:c.1531G>A NP_001073347.1:p.Val511Met
NM_001298.2:c.1585G>A NP_001289.1:p.Val529Met
XM_006712243.2:c.1696G>A XP_006712306.1:p.Val566Met
XM_011510554.1:c.1750G>A XP_011508856.1:p.Val584Met
XM_011510554.2:c.1750G>A XP_011508856.1:p.Val584Met
NM_001079878.2:c.1531G>A NP_001073347.1:p.Val511Met
NM_001298.3:c.1585G>A MANE Select NP_001289.1:p.Val529Met
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