Canonical Allele Identifier: CA535104041

Gene: CNGA3

Linked Data

• dbSNP Id: rs1450230630
• gnomAD v2: 2-99012293-ATCT-A
• gnomAD v3: 2-98395830-ATCT-A
• gnomAD v4: 2-98395830-ATCT-A
• MyVariant Identifiers: chr2:g.99012294_99012296del (hg19) ; chr2:g.98395831_98395833del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98395838_98395840del , CM000664.2:g.98395838_98395840del	GRCh38
NC_000002.11:g.99012301_99012303del , CM000664.1:g.99012301_99012303del	GRCh37
NC_000002.10:g.98378733_98378735del	NCBI36
NG_009097.1:g.54684_54686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.674-6_674-4del MANE Select	ENSP00000272602.2:n.674-6_674-4del
ENST00000272602.6:c.674-6_674-4del	ENSP00000272602.2:n.674-6_674-4del
ENST00000393504.5:c.674-6_674-4del	ENSP00000377140.1:n.674-6_674-4del
ENST00000409937.1:c.686-6_686-4del	ENSP00000386761.1:n.686-6_686-4del
ENST00000436404.6:c.620-6_620-4del	ENSP00000410070.2:n.620-6_620-4del
NM_001079878.1:c.620-6_620-4del	NP_001073347.1:n.620-6_620-4del
NM_001298.2:c.674-6_674-4del	NP_001289.1:n.674-6_674-4del
XM_006712243.2:c.785-6_785-4del	XP_006712306.1:n.785-6_785-4del
XM_011510554.1:c.839-6_839-4del	XP_011508856.1:n.839-6_839-4del
XM_011510554.2:c.839-6_839-4del	XP_011508856.1:n.839-6_839-4del
NM_001079878.2:c.620-6_620-4del	NP_001073347.1:n.620-6_620-4del
NM_001298.3:c.674-6_674-4del MANE Select	NP_001289.1:n.674-6_674-4del