Canonical Allele Identifier: CA2660313237

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98395778-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395778T>C , CM000664.2:g.98395778T>C	GRCh38
NC_000002.11:g.99012241T>C , CM000664.1:g.99012241T>C	GRCh37
NC_000002.10:g.98378673T>C	NCBI36
NG_009097.1:g.54624T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.674-66T>C MANE Select	ENSP00000272602.2:n.674-66T>C
ENST00000272602.6:c.674-66T>C	ENSP00000272602.2:n.674-66T>C
ENST00000393504.5:c.674-66T>C	ENSP00000377140.1:n.674-66T>C
ENST00000409937.1:c.686-66T>C	ENSP00000386761.1:n.686-66T>C
ENST00000436404.6:c.620-66T>C	ENSP00000410070.2:n.620-66T>C
NM_001079878.1:c.620-66T>C	NP_001073347.1:n.620-66T>C
NM_001298.2:c.674-66T>C	NP_001289.1:n.674-66T>C
XM_006712243.2:c.785-66T>C	XP_006712306.1:n.785-66T>C
XM_011510554.1:c.839-66T>C	XP_011508856.1:n.839-66T>C
XM_011510554.2:c.839-66T>C	XP_011508856.1:n.839-66T>C
NM_001079878.2:c.620-66T>C	NP_001073347.1:n.620-66T>C
NM_001298.3:c.674-66T>C MANE Select	NP_001289.1:n.674-66T>C