Canonical Allele Identifier: CA427567113

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99006232T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389769T>C , CM000664.2:g.98389769T>C	GRCh38
NC_000002.11:g.99006232T>C , CM000664.1:g.99006232T>C	GRCh37
NC_000002.10:g.98372664T>C	NCBI36
NG_009097.1:g.48615T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.561T>C MANE Select	ENSP00000272602.2:p.Ile187=
ENST00000272602.6:c.561T>C	ENSP00000272602.2:p.Ile187=
ENST00000393503.2:n.566T>C
ENST00000393504.5:c.561T>C	ENSP00000377140.1:p.Ile187=
ENST00000409937.1:c.573T>C	ENSP00000386761.1:p.Ile191=
ENST00000436404.6:c.507T>C	ENSP00000410070.2:p.Ile169=
NM_001079878.1:c.507T>C	NP_001073347.1:p.Ile169=
NM_001298.2:c.561T>C	NP_001289.1:p.Ile187=
XM_006712243.2:c.672T>C	XP_006712306.1:p.Ile224=
XM_011510554.1:c.726T>C	XP_011508856.1:p.Ile242=
XM_011510554.2:c.726T>C	XP_011508856.1:p.Ile242=
NM_001079878.2:c.507T>C	NP_001073347.1:p.Ile169=
NM_001298.3:c.561T>C MANE Select	NP_001289.1:p.Ile187=