Canonical Allele Identifier: CA1794067
Gene: CNGA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 265467
ClinVar RCV Id: RCV000254808 RCV000504957 RCV001074992 RCV001782754
dbSNP Id: rs552069173
ExAC: 2:99013321 G / A
gnomAD v2: 2-99013321-G-A
gnomAD v3: 2-98396858-G-A
gnomAD v4: 2-98396858-G-A
COSMIC: COSM4986493
MyVariant Identifiers: chr2:g.99013321G>A (hg19) chr2:g.98396858G>A (hg38)
PubMed: PMID:11536077 PMID:28041643
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396858G>A , CM000664.2:g.98396858G>A GRCh38
NC_000002.11:g.99013321G>A , CM000664.1:g.99013321G>A GRCh37
NC_000002.10:g.98379753G>A NCBI36
NG_009097.1:g.55704G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272602.7:c.1688G>A MANE Select ENSP00000272602.2:p.Arg563His
ENST00000272602.6:c.1688G>A ENSP00000272602.2:p.Arg563His
ENST00000393504.5:c.1688G>A ENSP00000377140.1:p.Arg563His
ENST00000409937.1:c.1700G>A ENSP00000386761.1:p.Arg567His
ENST00000436404.6:c.1634G>A ENSP00000410070.2:p.Arg545His
NM_001079878.1:c.1634G>A NP_001073347.1:p.Arg545His
NM_001298.2:c.1688G>A NP_001289.1:p.Arg563His
XM_006712243.2:c.1799G>A XP_006712306.1:p.Arg600His
XM_011510554.1:c.1853G>A XP_011508856.1:p.Arg618His
XM_011510554.2:c.1853G>A XP_011508856.1:p.Arg618His
NM_001079878.2:c.1634G>A NP_001073347.1:p.Arg545His
NM_001298.3:c.1688G>A MANE Select NP_001289.1:p.Arg563His
Search 100 bp 5'
Search 100 bp 3'