Canonical Allele Identifier: CA347831627

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99006223T>G (hg19) ; chr2:g.98389760T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389760T>G , CM000664.2:g.98389760T>G	GRCh38
NC_000002.11:g.99006223T>G , CM000664.1:g.99006223T>G	GRCh37
NC_000002.10:g.98372655T>G	NCBI36
NG_009097.1:g.48606T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.552T>G MANE Select	ENSP00000272602.2:p.Tyr184Ter
ENST00000272602.6:c.552T>G	ENSP00000272602.2:p.Tyr184Ter
ENST00000393503.2:n.557T>G
ENST00000393504.5:c.552T>G	ENSP00000377140.1:p.Tyr184Ter
ENST00000409937.1:c.564T>G	ENSP00000386761.1:p.Tyr188Ter
ENST00000436404.6:c.498T>G	ENSP00000410070.2:p.Tyr166Ter
NM_001079878.1:c.498T>G	NP_001073347.1:p.Tyr166Ter
NM_001298.2:c.552T>G	NP_001289.1:p.Tyr184Ter
XM_006712243.2:c.663T>G	XP_006712306.1:p.Tyr221Ter
XM_011510554.1:c.717T>G	XP_011508856.1:p.Tyr239Ter
XM_011510554.2:c.717T>G	XP_011508856.1:p.Tyr239Ter
NM_001079878.2:c.498T>G	NP_001073347.1:p.Tyr166Ter
NM_001298.3:c.552T>G MANE Select	NP_001289.1:p.Tyr184Ter