Canonical Allele Identifier: CA10616510

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 337650
• ClinVar RCV Id: RCV000286099
• dbSNP Id: rs192111633
• gnomAD v2: 2-98962764-G-A
• gnomAD v3: 2-98346301-G-A
• gnomAD v4: 2-98346301-G-A
• MyVariant Identifiers: chr2:g.98962764G>A (hg19) ; chr2:g.98346301G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98346301G>A , CM000664.2:g.98346301G>A	GRCh38
NC_000002.11:g.98962764G>A , CM000664.1:g.98962764G>A	GRCh37
NC_000002.10:g.98329196G>A	NCBI36
NG_009097.1:g.5147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393504.5:c.-271G>A	ENSP00000377140.1:n.-271G>A
ENST00000436404.6:c.-271G>A	ENSP00000410070.2:n.-271G>A
NM_001079878.1:c.-271G>A	NP_001073347.1:n.-271G>A
NM_001298.2:c.-271G>A	NP_001289.1:n.-271G>A
XM_006712243.2:c.-271G>A	XP_006712306.1:n.-271G>A
XM_011510554.1:c.-354G>A	XP_011508856.1:n.-354G>A
XM_011510554.2:c.-354G>A	XP_011508856.1:n.-354G>A