Canonical Allele Identifier: CA347831933

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012324T>A (hg19) ; chr2:g.98395861T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395861T>A , CM000664.2:g.98395861T>A	GRCh38
NC_000002.11:g.99012324T>A , CM000664.1:g.99012324T>A	GRCh37
NC_000002.10:g.98378756T>A	NCBI36
NG_009097.1:g.54707T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.691T>A MANE Select	ENSP00000272602.2:p.Leu231Ile
ENST00000272602.6:c.691T>A	ENSP00000272602.2:p.Leu231Ile
ENST00000393504.5:c.691T>A	ENSP00000377140.1:p.Leu231Ile
ENST00000409937.1:c.703T>A	ENSP00000386761.1:p.Leu235Ile
ENST00000436404.6:c.637T>A	ENSP00000410070.2:p.Leu213Ile
NM_001079878.1:c.637T>A	NP_001073347.1:p.Leu213Ile
NM_001298.2:c.691T>A	NP_001289.1:p.Leu231Ile
XM_006712243.2:c.802T>A	XP_006712306.1:p.Leu268Ile
XM_011510554.1:c.856T>A	XP_011508856.1:p.Leu286Ile
XM_011510554.2:c.856T>A	XP_011508856.1:p.Leu286Ile
NM_001079878.2:c.637T>A	NP_001073347.1:p.Leu213Ile
NM_001298.3:c.691T>A MANE Select	NP_001289.1:p.Leu231Ile