Canonical Allele Identifier: CA347830372

Gene: CNGA3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98377726G>C , CM000664.2:g.98377726G>C	GRCh38
NC_000002.11:g.98994189G>C , CM000664.1:g.98994189G>C	GRCh37
NC_000002.10:g.98360621G>C	NCBI36
NG_009097.1:g.36572G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001298.3:c.141G>C MANE Select	NP_001289.1:p.Gln47His
ENST00000272602.7:c.141G>C MANE Select	ENSP00000272602.2:p.Gln47His
NM_001079878.1:c.141G>C	NP_001073347.1:p.Gln47His
NM_001079878.2:c.141G>C	NP_001073347.1:p.Gln47His
NM_001298.2:c.141G>C	NP_001289.1:p.Gln47His
ENST00000272602.6:c.141G>C	ENSP00000272602.2:p.Gln47His
ENST00000393504.5:c.141G>C	ENSP00000377140.1:p.Gln47His
ENST00000409937.1:c.-13G>C	ENSP00000386761.1:n.-13G>C
ENST00000436404.6:c.141G>C	ENSP00000410070.2:p.Gln47His
XM_006712243.2:c.141G>C	XP_006712306.1:p.Gln47His
XM_011510554.1:c.141G>C	XP_011508856.1:p.Gln47His
XM_011510554.2:c.141G>C	XP_011508856.1:p.Gln47His