Canonical Allele Identifier: CA347831953

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012331T>G (hg19) ; chr2:g.98395868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395868T>G , CM000664.2:g.98395868T>G	GRCh38
NC_000002.11:g.99012331T>G , CM000664.1:g.99012331T>G	GRCh37
NC_000002.10:g.98378763T>G	NCBI36
NG_009097.1:g.54714T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.698T>G MANE Select	ENSP00000272602.2:p.Val233Gly
ENST00000272602.6:c.698T>G	ENSP00000272602.2:p.Val233Gly
ENST00000393504.5:c.698T>G	ENSP00000377140.1:p.Val233Gly
ENST00000409937.1:c.710T>G	ENSP00000386761.1:p.Val237Gly
ENST00000436404.6:c.644T>G	ENSP00000410070.2:p.Val215Gly
NM_001079878.1:c.644T>G	NP_001073347.1:p.Val215Gly
NM_001298.2:c.698T>G	NP_001289.1:p.Val233Gly
XM_006712243.2:c.809T>G	XP_006712306.1:p.Val270Gly
XM_011510554.1:c.863T>G	XP_011508856.1:p.Val288Gly
XM_011510554.2:c.863T>G	XP_011508856.1:p.Val288Gly
NM_001079878.2:c.644T>G	NP_001073347.1:p.Val215Gly
NM_001298.3:c.698T>G MANE Select	NP_001289.1:p.Val233Gly