Canonical Allele Identifier: CA427820191
Gene: CNGA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1559559
ClinVar RCV Id: RCV002202941
dbSNP Id: rs207462093
gnomAD v4: 2-98396754-C-A
MyVariant Identifiers: chr2:g.99013217C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396754C>A , CM000664.2:g.98396754C>A GRCh38
NC_000002.11:g.99013217C>A , CM000664.1:g.99013217C>A GRCh37
NC_000002.10:g.98379649C>A NCBI36
NG_009097.1:g.55600C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.1584C>A MANE Select ENSP00000272602.2:p.Ala528=
ENST00000272602.6:c.1584C>A ENSP00000272602.2:p.Ala528=
ENST00000393504.5:c.1584C>A ENSP00000377140.1:p.Ala528=
ENST00000409937.1:c.1596C>A ENSP00000386761.1:p.Ala532=
ENST00000436404.6:c.1530C>A ENSP00000410070.2:p.Ala510=
NM_001079878.1:c.1530C>A NP_001073347.1:p.Ala510=
NM_001298.2:c.1584C>A NP_001289.1:p.Ala528=
XM_006712243.2:c.1695C>A XP_006712306.1:p.Ala565=
XM_011510554.1:c.1749C>A XP_011508856.1:p.Ala583=
XM_011510554.2:c.1749C>A XP_011508856.1:p.Ala583=
NM_001079878.2:c.1530C>A NP_001073347.1:p.Ala510=
NM_001298.3:c.1584C>A MANE Select NP_001289.1:p.Ala528=