Canonical Allele Identifier: CA347832280

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012487T>G (hg19) ; chr2:g.98396024T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396024T>G , CM000664.2:g.98396024T>G	GRCh38
NC_000002.11:g.99012487T>G , CM000664.1:g.99012487T>G	GRCh37
NC_000002.10:g.98378919T>G	NCBI36
NG_009097.1:g.54870T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.854T>G MANE Select	ENSP00000272602.2:p.Phe285Cys
ENST00000272602.6:c.854T>G	ENSP00000272602.2:p.Phe285Cys
ENST00000393504.5:c.854T>G	ENSP00000377140.1:p.Phe285Cys
ENST00000409937.1:c.866T>G	ENSP00000386761.1:p.Phe289Cys
ENST00000436404.6:c.800T>G	ENSP00000410070.2:p.Phe267Cys
NM_001079878.1:c.800T>G	NP_001073347.1:p.Phe267Cys
NM_001298.2:c.854T>G	NP_001289.1:p.Phe285Cys
XM_006712243.2:c.965T>G	XP_006712306.1:p.Phe322Cys
XM_011510554.1:c.1019T>G	XP_011508856.1:p.Phe340Cys
XM_011510554.2:c.1019T>G	XP_011508856.1:p.Phe340Cys
NM_001079878.2:c.800T>G	NP_001073347.1:p.Phe267Cys
NM_001298.3:c.854T>G MANE Select	NP_001289.1:p.Phe285Cys