Canonical Allele Identifier: CA1794053

Gene: CNGA3

Linked Data

• ClinVar Variation Id: 425212
• ClinVar RCV Id: RCV000488165 ; RCV001002969 ; RCV001139697
• dbSNP Id: rs116448158
• ExAC: 2:99013251 G / A
• gnomAD v2: 2-99013251-G-A
• gnomAD v3: 2-98396788-G-A
• gnomAD v4: 2-98396788-G-A
• MyVariant Identifiers: chr2:g.99013251G>A (hg19) ; chr2:g.98396788G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.98396788G>A , CM000664.2:g.98396788G>A	GRCh38
NC_000002.11:g.99013251G>A , CM000664.1:g.99013251G>A	GRCh37
NC_000002.10:g.98379683G>A	NCBI36
NG_009097.1:g.55634G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272602.7:c.1618G>A MANE Select	ENSP00000272602.2:p.Val540Ile
ENST00000272602.6:c.1618G>A	ENSP00000272602.2:p.Val540Ile
ENST00000393504.5:c.1618G>A	ENSP00000377140.1:p.Val540Ile
ENST00000409937.1:c.1630G>A	ENSP00000386761.1:p.Val544Ile
ENST00000436404.6:c.1564G>A	ENSP00000410070.2:p.Val522Ile
NM_001079878.1:c.1564G>A	NP_001073347.1:p.Val522Ile
NM_001298.2:c.1618G>A	NP_001289.1:p.Val540Ile
XM_006712243.2:c.1729G>A	XP_006712306.1:p.Val577Ile
XM_011510554.1:c.1783G>A	XP_011508856.1:p.Val595Ile
XM_011510554.2:c.1783G>A	XP_011508856.1:p.Val595Ile
NM_001079878.2:c.1564G>A	NP_001073347.1:p.Val522Ile
NM_001298.3:c.1618G>A MANE Select	NP_001289.1:p.Val540Ile