Canonical Allele Identifier: CA1793881

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 898386
• ClinVar RCV Id: RCV001142226
• dbSNP Id: rs768456172
• ExAC: 2:99012348 C / T
• gnomAD v2: 2-99012348-C-T
• gnomAD v4: 2-98395885-C-T
• MyVariant Identifiers: chr2:g.99012348C>T (hg19) ; chr2:g.98395885C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395885C>T , CM000664.2:g.98395885C>T	GRCh38
NC_000002.11:g.99012348C>T , CM000664.1:g.99012348C>T	GRCh37
NC_000002.10:g.98378780C>T	NCBI36
NG_009097.1:g.54731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.715C>T MANE Select	ENSP00000272602.2:p.Leu239=
ENST00000272602.6:c.715C>T	ENSP00000272602.2:p.Leu239=
ENST00000393504.5:c.715C>T	ENSP00000377140.1:p.Leu239=
ENST00000409937.1:c.727C>T	ENSP00000386761.1:p.Leu243=
ENST00000436404.6:c.661C>T	ENSP00000410070.2:p.Leu221=
NM_001079878.1:c.661C>T	NP_001073347.1:p.Leu221=
NM_001298.2:c.715C>T	NP_001289.1:p.Leu239=
XM_006712243.2:c.826C>T	XP_006712306.1:p.Leu276=
XM_011510554.1:c.880C>T	XP_011508856.1:p.Leu294=
XM_011510554.2:c.880C>T	XP_011508856.1:p.Leu294=
NM_001079878.2:c.661C>T	NP_001073347.1:p.Leu221=
NM_001298.3:c.715C>T MANE Select	NP_001289.1:p.Leu239=