Canonical Allele Identifier: CA427568392

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 1136916
• ClinVar RCV Id: RCV001472710
• dbSNP Id: rs1329749192
• gnomAD v3: 2-98395951-C-T
• gnomAD v4: 2-98395951-C-T
• MyVariant Identifiers: chr2:g.99012414C>T (hg19) ; chr2:g.98395951C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395951C>T , CM000664.2:g.98395951C>T	GRCh38
NC_000002.11:g.99012414C>T , CM000664.1:g.99012414C>T	GRCh37
NC_000002.10:g.98378846C>T	NCBI36
NG_009097.1:g.54797C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.781C>T MANE Select	ENSP00000272602.2:p.Leu261=
ENST00000272602.6:c.781C>T	ENSP00000272602.2:p.Leu261=
ENST00000393504.5:c.781C>T	ENSP00000377140.1:p.Leu261=
ENST00000409937.1:c.793C>T	ENSP00000386761.1:p.Leu265=
ENST00000436404.6:c.727C>T	ENSP00000410070.2:p.Leu243=
NM_001079878.1:c.727C>T	NP_001073347.1:p.Leu243=
NM_001298.2:c.781C>T	NP_001289.1:p.Leu261=
XM_006712243.2:c.892C>T	XP_006712306.1:p.Leu298=
XM_011510554.1:c.946C>T	XP_011508856.1:p.Leu316=
XM_011510554.2:c.946C>T	XP_011508856.1:p.Leu316=
NM_001079878.2:c.727C>T	NP_001073347.1:p.Leu243=
NM_001298.3:c.781C>T MANE Select	NP_001289.1:p.Leu261=