Canonical Allele Identifier: CA52624211

Gene: CNGA3

Linked Data

• dbSNP Id: rs1020360539
• gnomAD v4: 2-98389852-C-T
• MyVariant Identifiers: chr2:g.99006315C>T (hg19) ; chr2:g.98389852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389852C>T , CM000664.2:g.98389852C>T	GRCh38
NC_000002.11:g.99006315C>T , CM000664.1:g.99006315C>T	GRCh37
NC_000002.10:g.98372747C>T	NCBI36
NG_009097.1:g.48698C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.566+78C>T MANE Select	ENSP00000272602.2:n.566+78C>T
ENST00000272602.6:c.566+78C>T	ENSP00000272602.2:n.566+78C>T
ENST00000393504.5:c.566+78C>T	ENSP00000377140.1:n.566+78C>T
ENST00000409937.1:c.578+78C>T	ENSP00000386761.1:n.578+78C>T
ENST00000436404.6:c.512+78C>T	ENSP00000410070.2:n.512+78C>T
NM_001079878.1:c.512+78C>T	NP_001073347.1:n.512+78C>T
NM_001298.2:c.566+78C>T	NP_001289.1:n.566+78C>T
XM_006712243.2:c.677+78C>T	XP_006712306.1:n.677+78C>T
XM_011510554.1:c.731+78C>T	XP_011508856.1:n.731+78C>T
XM_011510554.2:c.731+78C>T	XP_011508856.1:n.731+78C>T
NM_001079878.2:c.512+78C>T	NP_001073347.1:n.512+78C>T
NM_001298.3:c.566+78C>T MANE Select	NP_001289.1:n.566+78C>T