Canonical Allele Identifier: CA347832254

Gene: CNGA3

Linked Data

• gnomAD v4: 2-98396011-T-C
• MyVariant Identifiers: chr2:g.99012474T>C (hg19) ; chr2:g.98396011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396011T>C , CM000664.2:g.98396011T>C	GRCh38
NC_000002.11:g.99012474T>C , CM000664.1:g.99012474T>C	GRCh37
NC_000002.10:g.98378906T>C	NCBI36
NG_009097.1:g.54857T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.841T>C MANE Select	ENSP00000272602.2:p.Phe281Leu
ENST00000272602.6:c.841T>C	ENSP00000272602.2:p.Phe281Leu
ENST00000393504.5:c.841T>C	ENSP00000377140.1:p.Phe281Leu
ENST00000409937.1:c.853T>C	ENSP00000386761.1:p.Phe285Leu
ENST00000436404.6:c.787T>C	ENSP00000410070.2:p.Phe263Leu
NM_001079878.1:c.787T>C	NP_001073347.1:p.Phe263Leu
NM_001298.2:c.841T>C	NP_001289.1:p.Phe281Leu
XM_006712243.2:c.952T>C	XP_006712306.1:p.Phe318Leu
XM_011510554.1:c.1006T>C	XP_011508856.1:p.Phe336Leu
XM_011510554.2:c.1006T>C	XP_011508856.1:p.Phe336Leu
NM_001079878.2:c.787T>C	NP_001073347.1:p.Phe263Leu
NM_001298.3:c.841T>C MANE Select	NP_001289.1:p.Phe281Leu