Canonical Allele Identifier: CA347832098

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012395G>T (hg19) ; chr2:g.98395932G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395932G>T , CM000664.2:g.98395932G>T	GRCh38
NC_000002.11:g.99012395G>T , CM000664.1:g.99012395G>T	GRCh37
NC_000002.10:g.98378827G>T	NCBI36
NG_009097.1:g.54778G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.762G>T MANE Select	ENSP00000272602.2:p.Leu254Phe
ENST00000272602.6:c.762G>T	ENSP00000272602.2:p.Leu254Phe
ENST00000393504.5:c.762G>T	ENSP00000377140.1:p.Leu254Phe
ENST00000409937.1:c.774G>T	ENSP00000386761.1:p.Leu258Phe
ENST00000436404.6:c.708G>T	ENSP00000410070.2:p.Leu236Phe
NM_001079878.1:c.708G>T	NP_001073347.1:p.Leu236Phe
NM_001298.2:c.762G>T	NP_001289.1:p.Leu254Phe
XM_006712243.2:c.873G>T	XP_006712306.1:p.Leu291Phe
XM_011510554.1:c.927G>T	XP_011508856.1:p.Leu309Phe
XM_011510554.2:c.927G>T	XP_011508856.1:p.Leu309Phe
NM_001079878.2:c.708G>T	NP_001073347.1:p.Leu236Phe
NM_001298.3:c.762G>T MANE Select	NP_001289.1:p.Leu254Phe