Canonical Allele Identifier: CA347832317

Gene: CNGA3

Linked Data

• dbSNP Id: rs199837807
• MyVariant Identifiers: chr2:g.99012502G>C (hg19) ; chr2:g.98396039G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396039G>C , CM000664.2:g.98396039G>C	GRCh38
NC_000002.11:g.99012502G>C , CM000664.1:g.99012502G>C	GRCh37
NC_000002.10:g.98378934G>C	NCBI36
NG_009097.1:g.54885G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.869G>C MANE Select	ENSP00000272602.2:p.Arg290Pro
ENST00000272602.6:c.869G>C	ENSP00000272602.2:p.Arg290Pro
ENST00000393504.5:c.869G>C	ENSP00000377140.1:p.Arg290Pro
ENST00000409937.1:c.881G>C	ENSP00000386761.1:p.Arg294Pro
ENST00000436404.6:c.815G>C	ENSP00000410070.2:p.Arg272Pro
NM_001079878.1:c.815G>C	NP_001073347.1:p.Arg272Pro
NM_001298.2:c.869G>C	NP_001289.1:p.Arg290Pro
XM_006712243.2:c.980G>C	XP_006712306.1:p.Arg327Pro
XM_011510554.1:c.1034G>C	XP_011508856.1:p.Arg345Pro
XM_011510554.2:c.1034G>C	XP_011508856.1:p.Arg345Pro
NM_001079878.2:c.815G>C	NP_001073347.1:p.Arg272Pro
NM_001298.3:c.869G>C MANE Select	NP_001289.1:p.Arg290Pro