Canonical Allele Identifier: CA1794069

Gene: CNGA3

Linked Data

• dbSNP Id: rs765358532
• ExAC: 2:99013325 G / T
• gnomAD v2: 2-99013325-G-T
• gnomAD v4: 2-98396862-G-T
• MyVariant Identifiers: chr2:g.99013325G>T (hg19) ; chr2:g.98396862G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396862G>T , CM000664.2:g.98396862G>T	GRCh38
NC_000002.11:g.99013325G>T , CM000664.1:g.99013325G>T	GRCh37
NC_000002.10:g.98379757G>T	NCBI36
NG_009097.1:g.55708G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.1692G>T MANE Select	ENSP00000272602.2:p.Arg564Ser
ENST00000272602.6:c.1692G>T	ENSP00000272602.2:p.Arg564Ser
ENST00000393504.5:c.1692G>T	ENSP00000377140.1:p.Arg564Ser
ENST00000409937.1:c.1704G>T	ENSP00000386761.1:p.Arg568Ser
ENST00000436404.6:c.1638G>T	ENSP00000410070.2:p.Arg546Ser
NM_001079878.1:c.1638G>T	NP_001073347.1:p.Arg546Ser
NM_001298.2:c.1692G>T	NP_001289.1:p.Arg564Ser
XM_006712243.2:c.1803G>T	XP_006712306.1:p.Arg601Ser
XM_011510554.1:c.1857G>T	XP_011508856.1:p.Arg619Ser
XM_011510554.2:c.1857G>T	XP_011508856.1:p.Arg619Ser
NM_001079878.2:c.1638G>T	NP_001073347.1:p.Arg546Ser
NM_001298.3:c.1692G>T MANE Select	NP_001289.1:p.Arg564Ser