Canonical Allele Identifier: CA2499216312

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 1064483
• ClinVar RCV Id: RCV001729884
• dbSNP Id: rs2104229154
• gnomAD v4: 2-98389667-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98389672del , CM000664.2:g.98389672del	GRCh38
NC_000002.11:g.99006135del , CM000664.1:g.99006135del	GRCh37
NC_000002.10:g.98372567del	NCBI36
NG_009097.1:g.48518del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.464del MANE Select	ENSP00000272602.2:p.Lys155ArgfsTer18
ENST00000272602.6:c.464del	ENSP00000272602.2:p.Lys155ArgfsTer18
ENST00000393503.2:n.469del
ENST00000393504.5:c.464del	ENSP00000377140.1:p.Lys155ArgfsTer18
ENST00000409937.1:c.476del	ENSP00000386761.1:p.Lys159ArgfsTer18
ENST00000436404.6:c.410del	ENSP00000410070.2:p.Lys137ArgfsTer18
NM_001079878.1:c.410del	NP_001073347.1:p.Lys137ArgfsTer18
NM_001298.2:c.464del	NP_001289.1:p.Lys155ArgfsTer18
XM_006712243.2:c.575del	XP_006712306.1:p.Lys192ArgfsTer18
XM_011510554.1:c.629del	XP_011508856.1:p.Lys210ArgfsTer18
XM_011510554.2:c.629del	XP_011508856.1:p.Lys210ArgfsTer18
NM_001079878.2:c.410del	NP_001073347.1:p.Lys137ArgfsTer18
NM_001298.3:c.464del MANE Select	NP_001289.1:p.Lys155ArgfsTer18