Canonical Allele Identifier: CA236065

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 191122
• ClinVar RCV Id: RCV000171302 ; RCV003984823
• dbSNP Id: rs786205532
• MyVariant Identifiers: chr2:g.99013206G>A (hg19) ; chr2:g.98396743G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396743G>A , CM000664.2:g.98396743G>A	GRCh38
NC_000002.11:g.99013206G>A , CM000664.1:g.99013206G>A	GRCh37
NC_000002.10:g.98379638G>A	NCBI36
NG_009097.1:g.55589G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1573G>A MANE Select	ENSP00000272602.2:p.Gly525Ser
ENST00000272602.6:c.1573G>A	ENSP00000272602.2:p.Gly525Ser
ENST00000393504.5:c.1573G>A	ENSP00000377140.1:p.Gly525Ser
ENST00000409937.1:c.1585G>A	ENSP00000386761.1:p.Gly529Ser
ENST00000436404.6:c.1519G>A	ENSP00000410070.2:p.Gly507Ser
NM_001079878.1:c.1519G>A	NP_001073347.1:p.Gly507Ser
NM_001298.2:c.1573G>A	NP_001289.1:p.Gly525Ser
XM_006712243.2:c.1684G>A	XP_006712306.1:p.Gly562Ser
XM_011510554.1:c.1738G>A	XP_011508856.1:p.Gly580Ser
XM_011510554.2:c.1738G>A	XP_011508856.1:p.Gly580Ser
NM_001079878.2:c.1519G>A	NP_001073347.1:p.Gly507Ser
NM_001298.3:c.1573G>A MANE Select	NP_001289.1:p.Gly525Ser