Canonical Allele Identifier: CA52634952

Gene: CNGA3

Linked Data

• dbSNP Id: rs199527709
• gnomAD v2: 2-99012093-T-TA
• gnomAD v3: 2-98395630-T-TA
• gnomAD v4: 2-98395630-T-TA
• MyVariant Identifiers: chr2:g.99012094_99012095insA (hg19) ; chr2:g.99012093_99012094insA (hg19) ; chr2:g.98395631_98395632insA (hg38) ; chr2:g.98395630_98395631insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395637dup , CM000664.2:g.98395637dup	GRCh38
NC_000002.11:g.99012100dup , CM000664.1:g.99012100dup	GRCh37
NC_000002.10:g.98378532dup	NCBI36
NG_009097.1:g.54483dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.674-207dup MANE Select	ENSP00000272602.2:n.674-207dup
ENST00000272602.6:c.674-207dup	ENSP00000272602.2:n.674-207dup
ENST00000393504.5:c.674-207dup	ENSP00000377140.1:n.674-207dup
ENST00000409937.1:c.686-207dup	ENSP00000386761.1:n.686-207dup
ENST00000436404.6:c.620-207dup	ENSP00000410070.2:n.620-207dup
NM_001079878.1:c.620-207dup	NP_001073347.1:n.620-207dup
NM_001298.2:c.674-207dup	NP_001289.1:n.674-207dup
XM_006712243.2:c.785-207dup	XP_006712306.1:n.785-207dup
XM_011510554.1:c.839-207dup	XP_011508856.1:n.839-207dup
XM_011510554.2:c.839-207dup	XP_011508856.1:n.839-207dup
NM_001079878.2:c.620-207dup	NP_001073347.1:n.620-207dup
NM_001298.3:c.674-207dup MANE Select	NP_001289.1:n.674-207dup