Canonical Allele Identifier: CA247587

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 198770
• ClinVar RCV Id: RCV000180214
• dbSNP Id: rs367597798
• ExAC: 2:99012501 C / T
• gnomAD v2: 2-99012501-C-T
• gnomAD v3: 2-98396038-C-T
• gnomAD v4: 2-98396038-C-T
• MyVariant Identifiers: chr2:g.99012501C>T (hg19) ; chr2:g.98396038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396038C>T , CM000664.2:g.98396038C>T	GRCh38
NC_000002.11:g.99012501C>T , CM000664.1:g.99012501C>T	GRCh37
NC_000002.10:g.98378933C>T	NCBI36
NG_009097.1:g.54884C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.868C>T MANE Select	ENSP00000272602.2:p.Arg290Cys
ENST00000272602.6:c.868C>T	ENSP00000272602.2:p.Arg290Cys
ENST00000393504.5:c.868C>T	ENSP00000377140.1:p.Arg290Cys
ENST00000409937.1:c.880C>T	ENSP00000386761.1:p.Arg294Cys
ENST00000436404.6:c.814C>T	ENSP00000410070.2:p.Arg272Cys
NM_001079878.1:c.814C>T	NP_001073347.1:p.Arg272Cys
NM_001298.2:c.868C>T	NP_001289.1:p.Arg290Cys
XM_006712243.2:c.979C>T	XP_006712306.1:p.Arg327Cys
XM_011510554.1:c.1033C>T	XP_011508856.1:p.Arg345Cys
XM_011510554.2:c.1033C>T	XP_011508856.1:p.Arg345Cys
NM_001079878.2:c.814C>T	NP_001073347.1:p.Arg272Cys
NM_001298.3:c.868C>T MANE Select	NP_001289.1:p.Arg290Cys