Canonical Allele Identifier: CA347832075

Gene: CNGA3

Linked Data

• MyVariant Identifiers: chr2:g.99012384C>G (hg19) ; chr2:g.98395921C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395921C>G , CM000664.2:g.98395921C>G	GRCh38
NC_000002.11:g.99012384C>G , CM000664.1:g.99012384C>G	GRCh37
NC_000002.10:g.98378816C>G	NCBI36
NG_009097.1:g.54767C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.751C>G MANE Select	ENSP00000272602.2:p.Leu251Val
ENST00000272602.6:c.751C>G	ENSP00000272602.2:p.Leu251Val
ENST00000393504.5:c.751C>G	ENSP00000377140.1:p.Leu251Val
ENST00000409937.1:c.763C>G	ENSP00000386761.1:p.Leu255Val
ENST00000436404.6:c.697C>G	ENSP00000410070.2:p.Leu233Val
NM_001079878.1:c.697C>G	NP_001073347.1:p.Leu233Val
NM_001298.2:c.751C>G	NP_001289.1:p.Leu251Val
XM_006712243.2:c.862C>G	XP_006712306.1:p.Leu288Val
XM_011510554.1:c.916C>G	XP_011508856.1:p.Leu306Val
XM_011510554.2:c.916C>G	XP_011508856.1:p.Leu306Val
NM_001079878.2:c.697C>G	NP_001073347.1:p.Leu233Val
NM_001298.3:c.751C>G MANE Select	NP_001289.1:p.Leu251Val