Canonical Allele Identifier: CA347831639

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99006230A>G (hg19) ; chr2:g.98389767A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389767A>G , CM000664.2:g.98389767A>G	GRCh38
NC_000002.11:g.99006230A>G , CM000664.1:g.99006230A>G	GRCh37
NC_000002.10:g.98372662A>G	NCBI36
NG_009097.1:g.48613A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.559A>G MANE Select	ENSP00000272602.2:p.Ile187Val
ENST00000272602.6:c.559A>G	ENSP00000272602.2:p.Ile187Val
ENST00000393503.2:n.564A>G
ENST00000393504.5:c.559A>G	ENSP00000377140.1:p.Ile187Val
ENST00000409937.1:c.571A>G	ENSP00000386761.1:p.Ile191Val
ENST00000436404.6:c.505A>G	ENSP00000410070.2:p.Ile169Val
NM_001079878.1:c.505A>G	NP_001073347.1:p.Ile169Val
NM_001298.2:c.559A>G	NP_001289.1:p.Ile187Val
XM_006712243.2:c.670A>G	XP_006712306.1:p.Ile224Val
XM_011510554.1:c.724A>G	XP_011508856.1:p.Ile242Val
XM_011510554.2:c.724A>G	XP_011508856.1:p.Ile242Val
NM_001079878.2:c.505A>G	NP_001073347.1:p.Ile169Val
NM_001298.3:c.559A>G MANE Select	NP_001289.1:p.Ile187Val