Canonical Allele Identifier: CA347831628

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99006224C>A (hg19) ; chr2:g.98389761C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389761C>A , CM000664.2:g.98389761C>A	GRCh38
NC_000002.11:g.99006224C>A , CM000664.1:g.99006224C>A	GRCh37
NC_000002.10:g.98372656C>A	NCBI36
NG_009097.1:g.48607C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.553C>A MANE Select	ENSP00000272602.2:p.Leu185Met
ENST00000272602.6:c.553C>A	ENSP00000272602.2:p.Leu185Met
ENST00000393503.2:n.558C>A
ENST00000393504.5:c.553C>A	ENSP00000377140.1:p.Leu185Met
ENST00000409937.1:c.565C>A	ENSP00000386761.1:p.Leu189Met
ENST00000436404.6:c.499C>A	ENSP00000410070.2:p.Leu167Met
NM_001079878.1:c.499C>A	NP_001073347.1:p.Leu167Met
NM_001298.2:c.553C>A	NP_001289.1:p.Leu185Met
XM_006712243.2:c.664C>A	XP_006712306.1:p.Leu222Met
XM_011510554.1:c.718C>A	XP_011508856.1:p.Leu240Met
XM_011510554.2:c.718C>A	XP_011508856.1:p.Leu240Met
NM_001079878.2:c.499C>A	NP_001073347.1:p.Leu167Met
NM_001298.3:c.553C>A MANE Select	NP_001289.1:p.Leu185Met