Canonical Allele Identifier: CA347833838

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98396742-G-C
• MyVariant Identifiers: chr2:g.99013205G>C (hg19) ; chr2:g.98396742G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396742G>C , CM000664.2:g.98396742G>C	GRCh38
NC_000002.11:g.99013205G>C , CM000664.1:g.99013205G>C	GRCh37
NC_000002.10:g.98379637G>C	NCBI36
NG_009097.1:g.55588G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1572G>C MANE Select	ENSP00000272602.2:p.Glu524Asp
ENST00000272602.6:c.1572G>C	ENSP00000272602.2:p.Glu524Asp
ENST00000393504.5:c.1572G>C	ENSP00000377140.1:p.Glu524Asp
ENST00000409937.1:c.1584G>C	ENSP00000386761.1:p.Glu528Asp
ENST00000436404.6:c.1518G>C	ENSP00000410070.2:p.Glu506Asp
NM_001079878.1:c.1518G>C	NP_001073347.1:p.Glu506Asp
NM_001298.2:c.1572G>C	NP_001289.1:p.Glu524Asp
XM_006712243.2:c.1683G>C	XP_006712306.1:p.Glu561Asp
XM_011510554.1:c.1737G>C	XP_011508856.1:p.Glu579Asp
XM_011510554.2:c.1737G>C	XP_011508856.1:p.Glu579Asp
NM_001079878.2:c.1518G>C	NP_001073347.1:p.Glu506Asp
NM_001298.3:c.1572G>C MANE Select	NP_001289.1:p.Glu524Asp