Canonical Allele Identifier: CA427567956

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98395848-T-C
• MyVariant Identifiers: chr2:g.99012311T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395848T>C , CM000664.2:g.98395848T>C	GRCh38
NC_000002.11:g.99012311T>C , CM000664.1:g.99012311T>C	GRCh37
NC_000002.10:g.98378743T>C	NCBI36
NG_009097.1:g.54694T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.678T>C MANE Select	ENSP00000272602.2:p.Phe226=
ENST00000272602.6:c.678T>C	ENSP00000272602.2:p.Phe226=
ENST00000393504.5:c.678T>C	ENSP00000377140.1:p.Phe226=
ENST00000409937.1:c.690T>C	ENSP00000386761.1:p.Phe230=
ENST00000436404.6:c.624T>C	ENSP00000410070.2:p.Phe208=
NM_001079878.1:c.624T>C	NP_001073347.1:p.Phe208=
NM_001298.2:c.678T>C	NP_001289.1:p.Phe226=
XM_006712243.2:c.789T>C	XP_006712306.1:p.Phe263=
XM_011510554.1:c.843T>C	XP_011508856.1:p.Phe281=
XM_011510554.2:c.843T>C	XP_011508856.1:p.Phe281=
NM_001079878.2:c.624T>C	NP_001073347.1:p.Phe208=
NM_001298.3:c.678T>C MANE Select	NP_001289.1:p.Phe226=