Canonical Allele Identifier: CA347832122

Gene: CNGA3

Linked Data

• dbSNP Id: rs1191742974
• gnomAD v2: 2-99012408-A-G
• gnomAD v4: 2-98395945-A-G
• MyVariant Identifiers: chr2:g.99012408A>G (hg19) ; chr2:g.98395945A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395945A>G , CM000664.2:g.98395945A>G	GRCh38
NC_000002.11:g.99012408A>G , CM000664.1:g.99012408A>G	GRCh37
NC_000002.10:g.98378840A>G	NCBI36
NG_009097.1:g.54791A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.775A>G MANE Select	ENSP00000272602.2:p.Thr259Ala
ENST00000272602.6:c.775A>G	ENSP00000272602.2:p.Thr259Ala
ENST00000393504.5:c.775A>G	ENSP00000377140.1:p.Thr259Ala
ENST00000409937.1:c.787A>G	ENSP00000386761.1:p.Thr263Ala
ENST00000436404.6:c.721A>G	ENSP00000410070.2:p.Thr241Ala
NM_001079878.1:c.721A>G	NP_001073347.1:p.Thr241Ala
NM_001298.2:c.775A>G	NP_001289.1:p.Thr259Ala
XM_006712243.2:c.886A>G	XP_006712306.1:p.Thr296Ala
XM_011510554.1:c.940A>G	XP_011508856.1:p.Thr314Ala
XM_011510554.2:c.940A>G	XP_011508856.1:p.Thr314Ala
NM_001079878.2:c.721A>G	NP_001073347.1:p.Thr241Ala
NM_001298.3:c.775A>G MANE Select	NP_001289.1:p.Thr259Ala