Canonical Allele Identifier: CA96688817

Gene: CNGA1 NIPAL1

Linked Data

• ClinVar Variation Id: 2487149
• ClinVar RCV Id: RCV003212146
• dbSNP Id: rs892301890
• gnomAD v3: 4-47937194-C-T
• gnomAD v4: 4-47937194-C-T
• MyVariant Identifiers: chr4:g.47939211C>T (hg19) ; chr4:g.47937194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47937194C>T , CM000666.2:g.47937194C>T	GRCh38
NC_000004.11:g.47939211C>T , CM000666.1:g.47939211C>T	GRCh37
NC_000004.10:g.47633968C>T	NCBI36
NG_009193.1:g.80751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402813.9:c.1288G>A (CNGA1)	ENSP00000384264.5:p.Val430Ile
ENST00000420489.7:c.1288G>A (CNGA1)	ENSP00000389881.3:p.Val430Ile
ENST00000514170.7:c.1288G>A (CNGA1) MANE Select	ENSP00000426862.3:p.Val430Ile
ENST00000358519.8:c.1300G>A (CNGA1)	ENSP00000351320.4:p.Val434Ile
ENST00000402813.7:c.1507G>A (CNGA1)	ENSP00000384264.3:p.Val503Ile
ENST00000420489.6:c.1300G>A (CNGA1)	ENSP00000389881.2:p.Val434Ile
ENST00000500571.2:n.479-21830C>T (NIPAL1)
ENST00000513724.1:n.563+22490C>T (NIPAL1)
ENST00000514170.5:c.1300G>A (CNGA1)	ENSP00000426862.1:p.Val434Ile
ENST00000544810.5:c.1507G>A (CNGA1)	ENSP00000443401.2:p.Val503Ile
NM_000087.3:c.1300G>A (CNGA1)	NP_000078.2:p.Val434Ile
NM_001142564.1:c.1507G>A (CNGA1)	NP_001136036.1:p.Val503Ile
NR_125879.1:n.479-21830C>T
XM_005248049.3:c.1300G>A (CNGA1)	XP_005248106.1:p.Val434Ile
XM_011513623.1:c.1300G>A (CNGA1)	XP_011511925.1:p.Val434Ile
XM_005248049.4:c.1525G>A (CNGA1)	XP_005248106.2:p.Val509Ile
XM_011513623.2:c.1300G>A (CNGA1)	XP_011511925.1:p.Val434Ile
XM_017007712.1:c.1300G>A (CNGA1)	XP_016863201.1:p.Val434Ile
NM_000087.4:c.1300G>A (CNGA1)	NP_000078.2:p.Val434Ile
NM_001375386.1:c.1300G>A (CNGA1)	NP_001362315.1:p.Val434Ile
NM_000087.5:c.1288G>A (CNGA1)	NP_000078.3:p.Val430Ile
NM_001142564.2:c.1288G>A (CNGA1)	NP_001136036.2:p.Val430Ile
NM_001379270.1:c.1288G>A (CNGA1) MANE Select	NP_001366199.1:p.Val430Ile