Canonical Allele Identifier: CA427567938

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012308T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395845T>G , CM000664.2:g.98395845T>G	GRCh38
NC_000002.11:g.99012308T>G , CM000664.1:g.99012308T>G	GRCh37
NC_000002.10:g.98378740T>G	NCBI36
NG_009097.1:g.54691T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.675T>G MANE Select	ENSP00000272602.2:p.Gly225=
ENST00000272602.6:c.675T>G	ENSP00000272602.2:p.Gly225=
ENST00000393504.5:c.675T>G	ENSP00000377140.1:p.Gly225=
ENST00000409937.1:c.687T>G	ENSP00000386761.1:p.Gly229=
ENST00000436404.6:c.621T>G	ENSP00000410070.2:p.Gly207=
NM_001079878.1:c.621T>G	NP_001073347.1:p.Gly207=
NM_001298.2:c.675T>G	NP_001289.1:p.Gly225=
XM_006712243.2:c.786T>G	XP_006712306.1:p.Gly262=
XM_011510554.1:c.840T>G	XP_011508856.1:p.Gly280=
XM_011510554.2:c.840T>G	XP_011508856.1:p.Gly280=
NM_001079878.2:c.621T>G	NP_001073347.1:p.Gly207=
NM_001298.3:c.675T>G MANE Select	NP_001289.1:p.Gly225=