Canonical Allele Identifier: CA347831625

Gene: CNGA3

Linked Data

• dbSNP Id: rs2104229937
• gnomAD v4: 2-98389759-A-G
• MyVariant Identifiers: chr2:g.99006222A>G (hg19) ; chr2:g.98389759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389759A>G , CM000664.2:g.98389759A>G	GRCh38
NC_000002.11:g.99006222A>G , CM000664.1:g.99006222A>G	GRCh37
NC_000002.10:g.98372654A>G	NCBI36
NG_009097.1:g.48605A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.551A>G MANE Select	ENSP00000272602.2:p.Tyr184Cys
ENST00000272602.6:c.551A>G	ENSP00000272602.2:p.Tyr184Cys
ENST00000393503.2:n.556A>G
ENST00000393504.5:c.551A>G	ENSP00000377140.1:p.Tyr184Cys
ENST00000409937.1:c.563A>G	ENSP00000386761.1:p.Tyr188Cys
ENST00000436404.6:c.497A>G	ENSP00000410070.2:p.Tyr166Cys
NM_001079878.1:c.497A>G	NP_001073347.1:p.Tyr166Cys
NM_001298.2:c.551A>G	NP_001289.1:p.Tyr184Cys
XM_006712243.2:c.662A>G	XP_006712306.1:p.Tyr221Cys
XM_011510554.1:c.716A>G	XP_011508856.1:p.Tyr239Cys
XM_011510554.2:c.716A>G	XP_011508856.1:p.Tyr239Cys
NM_001079878.2:c.497A>G	NP_001073347.1:p.Tyr166Cys
NM_001298.3:c.551A>G MANE Select	NP_001289.1:p.Tyr184Cys