Canonical Allele Identifier: CA347833851

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 988792
• ClinVar RCV Id: RCV001270464
• dbSNP Id: rs375928335
• gnomAD v4: 2-98396749-C-A
• MyVariant Identifiers: chr2:g.99013212C>A (hg19) ; chr2:g.98396749C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396749C>A , CM000664.2:g.98396749C>A	GRCh38
NC_000002.11:g.99013212C>A , CM000664.1:g.99013212C>A	GRCh37
NC_000002.10:g.98379644C>A	NCBI36
NG_009097.1:g.55595C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272602.7:c.1579C>A MANE Select	ENSP00000272602.2:p.Leu527Met
ENST00000272602.6:c.1579C>A	ENSP00000272602.2:p.Leu527Met
ENST00000393504.5:c.1579C>A	ENSP00000377140.1:p.Leu527Met
ENST00000409937.1:c.1591C>A	ENSP00000386761.1:p.Leu531Met
ENST00000436404.6:c.1525C>A	ENSP00000410070.2:p.Leu509Met
NM_001079878.1:c.1525C>A	NP_001073347.1:p.Leu509Met
NM_001298.2:c.1579C>A	NP_001289.1:p.Leu527Met
XM_006712243.2:c.1690C>A	XP_006712306.1:p.Leu564Met
XM_011510554.1:c.1744C>A	XP_011508856.1:p.Leu582Met
XM_011510554.2:c.1744C>A	XP_011508856.1:p.Leu582Met
NM_001079878.2:c.1525C>A	NP_001073347.1:p.Leu509Met
NM_001298.3:c.1579C>A MANE Select	NP_001289.1:p.Leu527Met