Canonical Allele Identifier: CA2660313239

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98395782-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395782T>C , CM000664.2:g.98395782T>C	GRCh38
NC_000002.11:g.99012245T>C , CM000664.1:g.99012245T>C	GRCh37
NC_000002.10:g.98378677T>C	NCBI36
NG_009097.1:g.54628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.674-62T>C MANE Select	ENSP00000272602.2:n.674-62T>C
ENST00000272602.6:c.674-62T>C	ENSP00000272602.2:n.674-62T>C
ENST00000393504.5:c.674-62T>C	ENSP00000377140.1:n.674-62T>C
ENST00000409937.1:c.686-62T>C	ENSP00000386761.1:n.686-62T>C
ENST00000436404.6:c.620-62T>C	ENSP00000410070.2:n.620-62T>C
NM_001079878.1:c.620-62T>C	NP_001073347.1:n.620-62T>C
NM_001298.2:c.674-62T>C	NP_001289.1:n.674-62T>C
XM_006712243.2:c.785-62T>C	XP_006712306.1:n.785-62T>C
XM_011510554.1:c.839-62T>C	XP_011508856.1:n.839-62T>C
XM_011510554.2:c.839-62T>C	XP_011508856.1:n.839-62T>C
NM_001079878.2:c.620-62T>C	NP_001073347.1:n.620-62T>C
NM_001298.3:c.674-62T>C MANE Select	NP_001289.1:n.674-62T>C