Canonical Allele Identifier: CA535104033

Gene: CNGA3

Linked Data

• dbSNP Id: rs1390794367
• gnomAD v2: 2-99012177-T-TATATAA
• gnomAD v3: 2-98395714-T-TATATAA
• gnomAD v4: 2-98395714-T-TATATAA
• MyVariant Identifiers: chr2:g.99012177_99012178insATATAA (hg19) ; chr2:g.98395714_98395715insATATAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395714_98395715insATATAA , CM000664.2:g.98395714_98395715insATATAA	GRCh38
NC_000002.11:g.99012177_99012178insATATAA , CM000664.1:g.99012177_99012178insATATAA	GRCh37
NC_000002.10:g.98378609_98378610insATATAA	NCBI36
NG_009097.1:g.54560_54561insATATAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.674-130_674-129insATATAA MANE Select	ENSP00000272602.2:n.674-130_674-129insATATAA
ENST00000272602.6:c.674-130_674-129insATATAA	ENSP00000272602.2:n.674-130_674-129insATATAA
ENST00000393504.5:c.674-130_674-129insATATAA	ENSP00000377140.1:n.674-130_674-129insATATAA
ENST00000409937.1:c.686-130_686-129insATATAA	ENSP00000386761.1:n.686-130_686-129insATATAA
ENST00000436404.6:c.620-130_620-129insATATAA	ENSP00000410070.2:n.620-130_620-129insATATAA
NM_001079878.1:c.620-130_620-129insATATAA	NP_001073347.1:n.620-130_620-129insATATAA
NM_001298.2:c.674-130_674-129insATATAA	NP_001289.1:n.674-130_674-129insATATAA
XM_006712243.2:c.785-130_785-129insATATAA	XP_006712306.1:n.785-130_785-129insATATAA
XM_011510554.1:c.839-130_839-129insATATAA	XP_011508856.1:n.839-130_839-129insATATAA
XM_011510554.2:c.839-130_839-129insATATAA	XP_011508856.1:n.839-130_839-129insATATAA
NM_001079878.2:c.620-130_620-129insATATAA	NP_001073347.1:n.620-130_620-129insATATAA
NM_001298.3:c.674-130_674-129insATATAA MANE Select	NP_001289.1:n.674-130_674-129insATATAA