Canonical Allele Identifier: CA347831429

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99006128A>G (hg19) ; chr2:g.98389665A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389665A>G , CM000664.2:g.98389665A>G	GRCh38
NC_000002.11:g.99006128A>G , CM000664.1:g.99006128A>G	GRCh37
NC_000002.10:g.98372560A>G	NCBI36
NG_009097.1:g.48511A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.457A>G MANE Select	ENSP00000272602.2:p.Thr153Ala
ENST00000272602.6:c.457A>G	ENSP00000272602.2:p.Thr153Ala
ENST00000393503.2:n.462A>G
ENST00000393504.5:c.457A>G	ENSP00000377140.1:p.Thr153Ala
ENST00000409937.1:c.469A>G	ENSP00000386761.1:p.Thr157Ala
ENST00000436404.6:c.403A>G	ENSP00000410070.2:p.Thr135Ala
NM_001079878.1:c.403A>G	NP_001073347.1:p.Thr135Ala
NM_001298.2:c.457A>G	NP_001289.1:p.Thr153Ala
XM_006712243.2:c.568A>G	XP_006712306.1:p.Thr190Ala
XM_011510554.1:c.622A>G	XP_011508856.1:p.Thr208Ala
XM_011510554.2:c.622A>G	XP_011508856.1:p.Thr208Ala
NM_001079878.2:c.403A>G	NP_001073347.1:p.Thr135Ala
NM_001298.3:c.457A>G MANE Select	NP_001289.1:p.Thr153Ala