Canonical Allele Identifier: CA347831960

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012335T>A (hg19) ; chr2:g.98395872T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395872T>A , CM000664.2:g.98395872T>A	GRCh38
NC_000002.11:g.99012335T>A , CM000664.1:g.99012335T>A	GRCh37
NC_000002.10:g.98378767T>A	NCBI36
NG_009097.1:g.54718T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.702T>A MANE Select	ENSP00000272602.2:p.Ser234Arg
ENST00000272602.6:c.702T>A	ENSP00000272602.2:p.Ser234Arg
ENST00000393504.5:c.702T>A	ENSP00000377140.1:p.Ser234Arg
ENST00000409937.1:c.714T>A	ENSP00000386761.1:p.Ser238Arg
ENST00000436404.6:c.648T>A	ENSP00000410070.2:p.Ser216Arg
NM_001079878.1:c.648T>A	NP_001073347.1:p.Ser216Arg
NM_001298.2:c.702T>A	NP_001289.1:p.Ser234Arg
XM_006712243.2:c.813T>A	XP_006712306.1:p.Ser271Arg
XM_011510554.1:c.867T>A	XP_011508856.1:p.Ser289Arg
XM_011510554.2:c.867T>A	XP_011508856.1:p.Ser289Arg
NM_001079878.2:c.648T>A	NP_001073347.1:p.Ser216Arg
NM_001298.3:c.702T>A MANE Select	NP_001289.1:p.Ser234Arg