Canonical Allele Identifier: CA1793764

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 285271
• ClinVar RCV Id: RCV000382107 ; RCV000948604 ; RCV001140364
• dbSNP Id: rs34314205
• ExAC: 2:99006129 C / T
• gnomAD v2: 2-99006129-C-T
• gnomAD v3: 2-98389666-C-T
• gnomAD v4: 2-98389666-C-T
• MyVariant Identifiers: chr2:g.99006129C>T (hg19) ; chr2:g.98389666C>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.458C>T MANE Select	ENSP00000272602.2:p.Thr153Met
ENST00000272602.6:c.458C>T	ENSP00000272602.2:p.Thr153Met
ENST00000393503.2:n.463C>T
ENST00000393504.5:c.458C>T	ENSP00000377140.1:p.Thr153Met
ENST00000409937.1:c.470C>T	ENSP00000386761.1:p.Thr157Met
ENST00000436404.6:c.404C>T	ENSP00000410070.2:p.Thr135Met
NM_001079878.1:c.404C>T	NP_001073347.1:p.Thr135Met
NM_001298.2:c.458C>T	NP_001289.1:p.Thr153Met
XM_006712243.2:c.569C>T	XP_006712306.1:p.Thr190Met
XM_011510554.1:c.623C>T	XP_011508856.1:p.Thr208Met
XM_011510554.2:c.623C>T	XP_011508856.1:p.Thr208Met
NM_001079878.2:c.404C>T	NP_001073347.1:p.Thr135Met
NM_001298.3:c.458C>T MANE Select	NP_001289.1:p.Thr153Met