Canonical Allele Identifier: CA254821
Gene: CNGA3 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9475
ClinVar RCV Id: RCV000010083
dbSNP Id: rs104893614

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.98396018G>A , CM000664.2:g.98396018G>A GRCh38
NC_000002.11:g.99012481G>A , CM000664.1:g.99012481G>A GRCh37
NC_000002.10:g.98378913G>A NCBI36
NG_009097.1:g.54864G>A

Transcript Alleles

HGVS Amino-acid change
NM_001079878.1:c.794G>A VV NP_001073347.1:p.Arg265Gln
NM_001298.2:c.848G>A VV NP_001289.1:p.Arg283Gln
XM_006712243.2:c.959G>A XP_006712306.1:p.Arg320Gln
XM_011510554.1:c.1013G>A XP_011508856.1:p.Arg338Gln
XM_011510554.2:c.1013G>A
ENST00000272602.6:c.848G>A ENSP00000272602.2:p.Arg283Gln
ENST00000393504.5:c.848G>A ENSP00000377140.1:p.Arg283Gln
ENST00000409937.1:c.860G>A ENSP00000386761.1:p.Arg287Gln
ENST00000436404.6:c.794G>A ENSP00000410070.2:p.Arg265Gln