Canonical Allele Identifier: CA347831915

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98395852-G-T
• COSMIC: COSM225837
• MyVariant Identifiers: chr2:g.99012315G>T (hg19) ; chr2:g.98395852G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395852G>T , CM000664.2:g.98395852G>T	GRCh38
NC_000002.11:g.99012315G>T , CM000664.1:g.99012315G>T	GRCh37
NC_000002.10:g.98378747G>T	NCBI36
NG_009097.1:g.54698G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.682G>T MANE Select	ENSP00000272602.2:p.Glu228Ter
ENST00000272602.6:c.682G>T	ENSP00000272602.2:p.Glu228Ter
ENST00000393504.5:c.682G>T	ENSP00000377140.1:p.Glu228Ter
ENST00000409937.1:c.694G>T	ENSP00000386761.1:p.Glu232Ter
ENST00000436404.6:c.628G>T	ENSP00000410070.2:p.Glu210Ter
NM_001079878.1:c.628G>T	NP_001073347.1:p.Glu210Ter
NM_001298.2:c.682G>T	NP_001289.1:p.Glu228Ter
XM_006712243.2:c.793G>T	XP_006712306.1:p.Glu265Ter
XM_011510554.1:c.847G>T	XP_011508856.1:p.Glu283Ter
XM_011510554.2:c.847G>T	XP_011508856.1:p.Glu283Ter
NM_001079878.2:c.628G>T	NP_001073347.1:p.Glu210Ter
NM_001298.3:c.682G>T MANE Select	NP_001289.1:p.Glu228Ter