Canonical Allele Identifier: CA347831431

Gene: CNGA3

Linked Data

• dbSNP Id: rs34314205
• gnomAD v2: 2-99006129-C-A
• gnomAD v4: 2-98389666-C-A
• MyVariant Identifiers: chr2:g.99006129C>A (hg19) ; chr2:g.98389666C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389666C>A , CM000664.2:g.98389666C>A	GRCh38
NC_000002.11:g.99006129C>A , CM000664.1:g.99006129C>A	GRCh37
NC_000002.10:g.98372561C>A	NCBI36
NG_009097.1:g.48512C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.458C>A MANE Select	ENSP00000272602.2:p.Thr153Lys
ENST00000272602.6:c.458C>A	ENSP00000272602.2:p.Thr153Lys
ENST00000393503.2:n.463C>A
ENST00000393504.5:c.458C>A	ENSP00000377140.1:p.Thr153Lys
ENST00000409937.1:c.470C>A	ENSP00000386761.1:p.Thr157Lys
ENST00000436404.6:c.404C>A	ENSP00000410070.2:p.Thr135Lys
NM_001079878.1:c.404C>A	NP_001073347.1:p.Thr135Lys
NM_001298.2:c.458C>A	NP_001289.1:p.Thr153Lys
XM_006712243.2:c.569C>A	XP_006712306.1:p.Thr190Lys
XM_011510554.1:c.623C>A	XP_011508856.1:p.Thr208Lys
XM_011510554.2:c.623C>A	XP_011508856.1:p.Thr208Lys
NM_001079878.2:c.404C>A	NP_001073347.1:p.Thr135Lys
NM_001298.3:c.458C>A MANE Select	NP_001289.1:p.Thr153Lys