Canonical Allele Identifier: CA52624033

Gene: CNGA3

Linked Data

• dbSNP Id: rs957791819
• gnomAD v3: 2-98389668-A-G
• gnomAD v4: 2-98389668-A-G
• COSMIC: COSM6033213
• MyVariant Identifiers: chr2:g.99006131A>G (hg19) ; chr2:g.98389668A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389668A>G , CM000664.2:g.98389668A>G	GRCh38
NC_000002.11:g.99006131A>G , CM000664.1:g.99006131A>G	GRCh37
NC_000002.10:g.98372563A>G	NCBI36
NG_009097.1:g.48514A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.460A>G MANE Select	ENSP00000272602.2:p.Lys154Glu
ENST00000272602.6:c.460A>G	ENSP00000272602.2:p.Lys154Glu
ENST00000393503.2:n.465A>G
ENST00000393504.5:c.460A>G	ENSP00000377140.1:p.Lys154Glu
ENST00000409937.1:c.472A>G	ENSP00000386761.1:p.Lys158Glu
ENST00000436404.6:c.406A>G	ENSP00000410070.2:p.Lys136Glu
NM_001079878.1:c.406A>G	NP_001073347.1:p.Lys136Glu
NM_001298.2:c.460A>G	NP_001289.1:p.Lys154Glu
XM_006712243.2:c.571A>G	XP_006712306.1:p.Lys191Glu
XM_011510554.1:c.625A>G	XP_011508856.1:p.Lys209Glu
XM_011510554.2:c.625A>G	XP_011508856.1:p.Lys209Glu
NM_001079878.2:c.406A>G	NP_001073347.1:p.Lys136Glu
NM_001298.3:c.460A>G MANE Select	NP_001289.1:p.Lys154Glu