Canonical Allele Identifier: CA2670552337

Gene: CNGA1 NIPAL1

Linked Data

• gnomAD v4: 4-47936410-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47936410G>C , CM000666.2:g.47936410G>C	GRCh38
NC_000004.11:g.47938427G>C , CM000666.1:g.47938427G>C	GRCh37
NC_000004.10:g.47633184G>C	NCBI36
NG_009193.1:g.81535C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402813.9:c.*11C>G (CNGA1)	ENSP00000384264.5:n.*11C>G
ENST00000420489.7:c.*11C>G (CNGA1)	ENSP00000389881.3:n.*11C>G
ENST00000514170.7:c.*11C>G (CNGA1) MANE Select	ENSP00000426862.3:n.*11C>G
ENST00000358519.8:c.*11C>G (CNGA1)	ENSP00000351320.4:n.*11C>G
ENST00000402813.7:c.*11C>G (CNGA1)	ENSP00000384264.3:n.*11C>G
ENST00000420489.6:c.*11C>G (CNGA1)	ENSP00000389881.2:n.*11C>G
ENST00000500571.2:n.478+21706G>C (NIPAL1)
ENST00000513724.1:n.563+21706G>C (NIPAL1)
ENST00000514170.5:c.*11C>G (CNGA1)	ENSP00000426862.1:n.*11C>G
ENST00000544810.5:c.2291C>G (CNGA1)	ENSP00000443401.2:n.2291C>G
NM_000087.3:c.*11C>G (CNGA1)	NP_000078.2:n.*11C>G
NM_001142564.1:c.*11C>G (CNGA1)	NP_001136036.1:n.*11C>G
NR_125879.1:n.478+21706G>C
XM_005248049.3:c.*11C>G (CNGA1)	XP_005248106.1:n.*11C>G
XM_011513623.1:c.*11C>G (CNGA1)	XP_011511925.1:n.*11C>G
XM_005248049.4:c.*11C>G (CNGA1)	XP_005248106.2:n.*11C>G
XM_011513623.2:c.*11C>G (CNGA1)	XP_011511925.1:n.*11C>G
XM_017007712.1:c.*11C>G (CNGA1)	XP_016863201.1:n.*11C>G
NM_000087.4:c.*11C>G (CNGA1)	NP_000078.2:n.*11C>G
NM_001375386.1:c.*11C>G (CNGA1)	NP_001362315.1:n.*11C>G
NM_000087.5:c.*11C>G (CNGA1)	NP_000078.3:n.*11C>G
NM_001142564.2:c.*11C>G (CNGA1)	NP_001136036.2:n.*11C>G
NM_001379270.1:c.*11C>G (CNGA1) MANE Select	NP_001366199.1:n.*11C>G