Canonical Allele Identifier: CA347834088

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99013325G>C (hg19) ; chr2:g.98396862G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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