Canonical Allele Identifier: CA347831971

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98395876-A-G
• MyVariant Identifiers: chr2:g.99012339A>G (hg19) ; chr2:g.98395876A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395876A>G , CM000664.2:g.98395876A>G	GRCh38
NC_000002.11:g.99012339A>G , CM000664.1:g.99012339A>G	GRCh37
NC_000002.10:g.98378771A>G	NCBI36
NG_009097.1:g.54722A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.706A>G MANE Select	ENSP00000272602.2:p.Thr236Ala
ENST00000272602.6:c.706A>G	ENSP00000272602.2:p.Thr236Ala
ENST00000393504.5:c.706A>G	ENSP00000377140.1:p.Thr236Ala
ENST00000409937.1:c.718A>G	ENSP00000386761.1:p.Thr240Ala
ENST00000436404.6:c.652A>G	ENSP00000410070.2:p.Thr218Ala
NM_001079878.1:c.652A>G	NP_001073347.1:p.Thr218Ala
NM_001298.2:c.706A>G	NP_001289.1:p.Thr236Ala
XM_006712243.2:c.817A>G	XP_006712306.1:p.Thr273Ala
XM_011510554.1:c.871A>G	XP_011508856.1:p.Thr291Ala
XM_011510554.2:c.871A>G	XP_011508856.1:p.Thr291Ala
NM_001079878.2:c.652A>G	NP_001073347.1:p.Thr218Ala
NM_001298.3:c.706A>G MANE Select	NP_001289.1:p.Thr236Ala