Canonical Allele Identifier: CA2578081528

Gene: CNGA1 NIPAL1

Linked Data

• gnomAD v4: 4-47936346-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47936346A>T , CM000666.2:g.47936346A>T	GRCh38
NC_000004.11:g.47938363A>T , CM000666.1:g.47938363A>T	GRCh37
NC_000004.10:g.47633120A>T	NCBI36
NG_009193.1:g.81599T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402813.9:c.*75T>A (CNGA1)	ENSP00000384264.5:n.*75T>A
ENST00000420489.7:c.*75T>A (CNGA1)	ENSP00000389881.3:n.*75T>A
ENST00000514170.7:c.*75T>A (CNGA1) MANE Select	ENSP00000426862.3:n.*75T>A
ENST00000358519.8:c.*75T>A (CNGA1)	ENSP00000351320.4:n.*75T>A
ENST00000402813.7:c.*75T>A (CNGA1)	ENSP00000384264.3:n.*75T>A
ENST00000420489.6:c.*75T>A (CNGA1)	ENSP00000389881.2:n.*75T>A
ENST00000500571.2:n.478+21642A>T (NIPAL1)
ENST00000513724.1:n.563+21642A>T (NIPAL1)
ENST00000514170.5:c.*75T>A (CNGA1)	ENSP00000426862.1:n.*75T>A
ENST00000544810.5:c.2355T>A (CNGA1)	ENSP00000443401.2:n.2355T>A
NM_000087.3:c.*75T>A (CNGA1)	NP_000078.2:n.*75T>A
NM_001142564.1:c.*75T>A (CNGA1)	NP_001136036.1:n.*75T>A
NR_125879.1:n.478+21642A>T
XM_005248049.3:c.*75T>A (CNGA1)	XP_005248106.1:n.*75T>A
XM_011513623.1:c.*75T>A (CNGA1)	XP_011511925.1:n.*75T>A
XM_005248049.4:c.*75T>A (CNGA1)	XP_005248106.2:n.*75T>A
XM_011513623.2:c.*75T>A (CNGA1)	XP_011511925.1:n.*75T>A
XM_017007712.1:c.*75T>A (CNGA1)	XP_016863201.1:n.*75T>A
NM_000087.4:c.*75T>A (CNGA1)	NP_000078.2:n.*75T>A
NM_001375386.1:c.*75T>A (CNGA1)	NP_001362315.1:n.*75T>A
NM_000087.5:c.*75T>A (CNGA1)	NP_000078.3:n.*75T>A
NM_001142564.2:c.*75T>A (CNGA1)	NP_001136036.2:n.*75T>A
NM_001379270.1:c.*75T>A (CNGA1) MANE Select	NP_001366199.1:n.*75T>A