Canonical Allele Identifier: CA254822
Gene: CNGA3 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.98396042C>G
GRCh37 chr2:g.99012505C>G
Revel Score:
ENST00000393504 0.955
ENST00000436404 0.955
ENST00000272602 (MANE Select) 0.955
ENST00000409937 0.955
gnomAD v4:
chr2-98396042-C-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000010085
RCV001075211
ClinVar Variation:
9477
dbSNP:
104893616
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396042C>G , CM000664.2:g.98396042C>G GRCh38
NC_000002.11:g.99012505C>G , CM000664.1:g.99012505C>G GRCh37
NC_000002.10:g.98378937C>G NCBI36
NG_009097.1:g.54888C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.872C>G MANE Select ENSP00000272602.2:p.Thr291Arg
ENST00000272602.6:c.872C>G ENSP00000272602.2:p.Thr291Arg
ENST00000393504.5:c.872C>G ENSP00000377140.1:p.Thr291Arg
ENST00000409937.1:c.884C>G ENSP00000386761.1:p.Thr295Arg
ENST00000436404.6:c.818C>G ENSP00000410070.2:p.Thr273Arg
NM_001079878.1:c.818C>G NP_001073347.1:p.Thr273Arg
NM_001298.2:c.872C>G NP_001289.1:p.Thr291Arg
XM_006712243.2:c.983C>G XP_006712306.1:p.Thr328Arg
XM_011510554.1:c.1037C>G XP_011508856.1:p.Thr346Arg
XM_011510554.2:c.1037C>G XP_011508856.1:p.Thr346Arg
NM_001079878.2:c.818C>G NP_001073347.1:p.Thr273Arg
NM_001298.3:c.872C>G MANE Select NP_001289.1:p.Thr291Arg
Search 100 bp 5'
Search 100 bp 3'