Canonical Allele Identifier: CA347831407

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99006119A>C (hg19) ; chr2:g.98389656A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389656A>C , CM000664.2:g.98389656A>C	GRCh38
NC_000002.11:g.99006119A>C , CM000664.1:g.99006119A>C	GRCh37
NC_000002.10:g.98372551A>C	NCBI36
NG_009097.1:g.48502A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.450-2A>C MANE Select	ENSP00000272602.2:n.450-2A>C
ENST00000272602.6:c.450-2A>C	ENSP00000272602.2:n.450-2A>C
ENST00000393503.2:n.455-2A>C
ENST00000393504.5:c.450-2A>C	ENSP00000377140.1:n.450-2A>C
ENST00000409937.1:c.462-2A>C	ENSP00000386761.1:n.462-2A>C
ENST00000436404.6:c.396-2A>C	ENSP00000410070.2:n.396-2A>C
NM_001079878.1:c.396-2A>C	NP_001073347.1:n.396-2A>C
NM_001298.2:c.450-2A>C	NP_001289.1:n.450-2A>C
XM_006712243.2:c.561-2A>C	XP_006712306.1:n.561-2A>C
XM_011510554.1:c.615-2A>C	XP_011508856.1:n.615-2A>C
XM_011510554.2:c.615-2A>C	XP_011508856.1:n.615-2A>C
NM_001079878.2:c.396-2A>C	NP_001073347.1:n.396-2A>C
NM_001298.3:c.450-2A>C MANE Select	NP_001289.1:n.450-2A>C