Canonical Allele Identifier: CA427568370

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012407C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395944C>A , CM000664.2:g.98395944C>A	GRCh38
NC_000002.11:g.99012407C>A , CM000664.1:g.99012407C>A	GRCh37
NC_000002.10:g.98378839C>A	NCBI36
NG_009097.1:g.54790C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.774C>A MANE Select	ENSP00000272602.2:p.Pro258=
ENST00000272602.6:c.774C>A	ENSP00000272602.2:p.Pro258=
ENST00000393504.5:c.774C>A	ENSP00000377140.1:p.Pro258=
ENST00000409937.1:c.786C>A	ENSP00000386761.1:p.Pro262=
ENST00000436404.6:c.720C>A	ENSP00000410070.2:p.Pro240=
NM_001079878.1:c.720C>A	NP_001073347.1:p.Pro240=
NM_001298.2:c.774C>A	NP_001289.1:p.Pro258=
XM_006712243.2:c.885C>A	XP_006712306.1:p.Pro295=
XM_011510554.1:c.939C>A	XP_011508856.1:p.Pro313=
XM_011510554.2:c.939C>A	XP_011508856.1:p.Pro313=
NM_001079878.2:c.720C>A	NP_001073347.1:p.Pro240=
NM_001298.3:c.774C>A MANE Select	NP_001289.1:p.Pro258=