Canonical Allele Identifier: CA254828
Gene: CNGA3 HGNC NCBI
ClinVar RCV:
RCV000010090
RCV000591222
RCV001042434
RCV001075358
ClinVar Variation:
9482
dbSNP:
104893621
gnomAD v2:
2:99012939 C / T
gnomAD v3:
2:98396476 C / T
gnomAD v4:
chr2-98396476-C-T
Joint Max Group AF 0.0002649 (SAS)
Genomes Max Group AF 0.00054309 (SAS)
Exomes Max Group AF 0.00022074 (SAS)
MyVariant.info:
GRCh38 chr2:g.98396476C>T
GRCh37 chr2:g.99012939C>T
Revel Score:
ENST00000393504 0.858
ENST00000436404 0.858
ENST00000272602 (MANE Select) 0.858
ENST00000409937 0.858
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396476C>T , CM000664.2:g.98396476C>T GRCh38
NC_000002.11:g.99012939C>T , CM000664.1:g.99012939C>T GRCh37
NC_000002.10:g.98379371C>T NCBI36
NG_009097.1:g.55322C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.1306C>T MANE Select ENSP00000272602.2:p.Arg436Trp
ENST00000272602.6:c.1306C>T ENSP00000272602.2:p.Arg436Trp
ENST00000393504.5:c.1306C>T ENSP00000377140.1:p.Arg436Trp
ENST00000409937.1:c.1318C>T ENSP00000386761.1:p.Arg440Trp
ENST00000436404.6:c.1252C>T ENSP00000410070.2:p.Arg418Trp
NM_001079878.1:c.1252C>T NP_001073347.1:p.Arg418Trp
NM_001298.2:c.1306C>T NP_001289.1:p.Arg436Trp
XM_006712243.2:c.1417C>T XP_006712306.1:p.Arg473Trp
XM_011510554.1:c.1471C>T XP_011508856.1:p.Arg491Trp
XM_011510554.2:c.1471C>T XP_011508856.1:p.Arg491Trp
NM_001079878.2:c.1252C>T NP_001073347.1:p.Arg418Trp
NM_001298.3:c.1306C>T MANE Select NP_001289.1:p.Arg436Trp
Search 100 bp 5'
Search 100 bp 3'