Canonical Allele Identifier: CA347832051

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 1064491
• ClinVar RCV Id: RCV001729891
• dbSNP Id: rs2104245397
• gnomAD v4: 2-98395912-C-T
• MyVariant Identifiers: chr2:g.99012375C>T (hg19) ; chr2:g.98395912C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395912C>T , CM000664.2:g.98395912C>T	GRCh38
NC_000002.11:g.99012375C>T , CM000664.1:g.99012375C>T	GRCh37
NC_000002.10:g.98378807C>T	NCBI36
NG_009097.1:g.54758C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.742C>T MANE Select	ENSP00000272602.2:p.Gln248Ter
ENST00000272602.6:c.742C>T	ENSP00000272602.2:p.Gln248Ter
ENST00000393504.5:c.742C>T	ENSP00000377140.1:p.Gln248Ter
ENST00000409937.1:c.754C>T	ENSP00000386761.1:p.Gln252Ter
ENST00000436404.6:c.688C>T	ENSP00000410070.2:p.Gln230Ter
NM_001079878.1:c.688C>T	NP_001073347.1:p.Gln230Ter
NM_001298.2:c.742C>T	NP_001289.1:p.Gln248Ter
XM_006712243.2:c.853C>T	XP_006712306.1:p.Gln285Ter
XM_011510554.1:c.907C>T	XP_011508856.1:p.Gln303Ter
XM_011510554.2:c.907C>T	XP_011508856.1:p.Gln303Ter
NM_001079878.2:c.688C>T	NP_001073347.1:p.Gln230Ter
NM_001298.3:c.742C>T MANE Select	NP_001289.1:p.Gln248Ter