Canonical Allele Identifier: CA427820193

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99013217C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396754C>G , CM000664.2:g.98396754C>G	GRCh38
NC_000002.11:g.99013217C>G , CM000664.1:g.99013217C>G	GRCh37
NC_000002.10:g.98379649C>G	NCBI36
NG_009097.1:g.55600C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.1584C>G MANE Select	ENSP00000272602.2:p.Ala528=
ENST00000272602.6:c.1584C>G	ENSP00000272602.2:p.Ala528=
ENST00000393504.5:c.1584C>G	ENSP00000377140.1:p.Ala528=
ENST00000409937.1:c.1596C>G	ENSP00000386761.1:p.Ala532=
ENST00000436404.6:c.1530C>G	ENSP00000410070.2:p.Ala510=
NM_001079878.1:c.1530C>G	NP_001073347.1:p.Ala510=
NM_001298.2:c.1584C>G	NP_001289.1:p.Ala528=
XM_006712243.2:c.1695C>G	XP_006712306.1:p.Ala565=
XM_011510554.1:c.1749C>G	XP_011508856.1:p.Ala583=
XM_011510554.2:c.1749C>G	XP_011508856.1:p.Ala583=
NM_001079878.2:c.1530C>G	NP_001073347.1:p.Ala510=
NM_001298.3:c.1584C>G MANE Select	NP_001289.1:p.Ala528=