Canonical Allele Identifier: CA427568278

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 1646705
• ClinVar RCV Id: RCV002136618
• dbSNP Id: rs62156349
• MyVariant Identifiers: chr2:g.99012386G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395923G>T , CM000664.2:g.98395923G>T	GRCh38
NC_000002.11:g.99012386G>T , CM000664.1:g.99012386G>T	GRCh37
NC_000002.10:g.98378818G>T	NCBI36
NG_009097.1:g.54769G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.753G>T MANE Select	ENSP00000272602.2:p.Leu251=
ENST00000272602.6:c.753G>T	ENSP00000272602.2:p.Leu251=
ENST00000393504.5:c.753G>T	ENSP00000377140.1:p.Leu251=
ENST00000409937.1:c.765G>T	ENSP00000386761.1:p.Leu255=
ENST00000436404.6:c.699G>T	ENSP00000410070.2:p.Leu233=
NM_001079878.1:c.699G>T	NP_001073347.1:p.Leu233=
NM_001298.2:c.753G>T	NP_001289.1:p.Leu251=
XM_006712243.2:c.864G>T	XP_006712306.1:p.Leu288=
XM_011510554.1:c.918G>T	XP_011508856.1:p.Leu306=
XM_011510554.2:c.918G>T	XP_011508856.1:p.Leu306=
NM_001079878.2:c.699G>T	NP_001073347.1:p.Leu233=
NM_001298.3:c.753G>T MANE Select	NP_001289.1:p.Leu251=