Canonical Allele Identifier: CA52634964

Gene: CNGA3

Linked Data

• dbSNP Id: rs1055630628
• MyVariant Identifiers: chr2:g.99012094A>T (hg19) ; chr2:g.98395631A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395631A>T , CM000664.2:g.98395631A>T	GRCh38
NC_000002.11:g.99012094A>T , CM000664.1:g.99012094A>T	GRCh37
NC_000002.10:g.98378526A>T	NCBI36
NG_009097.1:g.54477A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.674-213A>T MANE Select	ENSP00000272602.2:n.674-213A>T
ENST00000272602.6:c.674-213A>T	ENSP00000272602.2:n.674-213A>T
ENST00000393504.5:c.674-213A>T	ENSP00000377140.1:n.674-213A>T
ENST00000409937.1:c.686-213A>T	ENSP00000386761.1:n.686-213A>T
ENST00000436404.6:c.620-213A>T	ENSP00000410070.2:n.620-213A>T
NM_001079878.1:c.620-213A>T	NP_001073347.1:n.620-213A>T
NM_001298.2:c.674-213A>T	NP_001289.1:n.674-213A>T
XM_006712243.2:c.785-213A>T	XP_006712306.1:n.785-213A>T
XM_011510554.1:c.839-213A>T	XP_011508856.1:n.839-213A>T
XM_011510554.2:c.839-213A>T	XP_011508856.1:n.839-213A>T
NM_001079878.2:c.620-213A>T	NP_001073347.1:n.620-213A>T
NM_001298.3:c.674-213A>T MANE Select	NP_001289.1:n.674-213A>T