Canonical Allele Identifier: CA2911117

Gene: CNGA1 NIPAL1

Linked Data

• ClinVar Variation Id: 1044892
• ClinVar RCV Id: RCV001349212
• dbSNP Id: rs562266812
• ExAC: 4:47939325 T / C
• gnomAD v2: 4-47939325-T-C
• gnomAD v3: 4-47937308-T-C
• gnomAD v4: 4-47937308-T-C
• MyVariant Identifiers: chr4:g.47939325T>C (hg19) ; chr4:g.47937308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47937308T>C , CM000666.2:g.47937308T>C	GRCh38
NC_000004.11:g.47939325T>C , CM000666.1:g.47939325T>C	GRCh37
NC_000004.10:g.47634082T>C	NCBI36
NG_009193.1:g.80637A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402813.9:c.1174A>G (CNGA1)	ENSP00000384264.5:p.Ile392Val
ENST00000420489.7:c.1174A>G (CNGA1)	ENSP00000389881.3:p.Ile392Val
ENST00000514170.7:c.1174A>G (CNGA1) MANE Select	ENSP00000426862.3:p.Ile392Val
ENST00000358519.8:c.1186A>G (CNGA1)	ENSP00000351320.4:p.Ile396Val
ENST00000402813.7:c.1393A>G (CNGA1)	ENSP00000384264.3:p.Ile465Val
ENST00000420489.6:c.1186A>G (CNGA1)	ENSP00000389881.2:p.Ile396Val
ENST00000500571.2:n.479-21716T>C (NIPAL1)
ENST00000513724.1:n.563+22604T>C (NIPAL1)
ENST00000514170.5:c.1186A>G (CNGA1)	ENSP00000426862.1:p.Ile396Val
ENST00000544810.5:c.1393A>G (CNGA1)	ENSP00000443401.2:p.Ile465Val
NM_000087.3:c.1186A>G (CNGA1)	NP_000078.2:p.Ile396Val
NM_001142564.1:c.1393A>G (CNGA1)	NP_001136036.1:p.Ile465Val
NR_125879.1:n.479-21716T>C
XM_005248049.3:c.1186A>G (CNGA1)	XP_005248106.1:p.Ile396Val
XM_011513623.1:c.1186A>G (CNGA1)	XP_011511925.1:p.Ile396Val
XM_005248049.4:c.1411A>G (CNGA1)	XP_005248106.2:p.Ile471Val
XM_011513623.2:c.1186A>G (CNGA1)	XP_011511925.1:p.Ile396Val
XM_017007712.1:c.1186A>G (CNGA1)	XP_016863201.1:p.Ile396Val
NM_000087.4:c.1186A>G (CNGA1)	NP_000078.2:p.Ile396Val
NM_001375386.1:c.1186A>G (CNGA1)	NP_001362315.1:p.Ile396Val
NM_000087.5:c.1174A>G (CNGA1)	NP_000078.3:p.Ile392Val
NM_001142564.2:c.1174A>G (CNGA1)	NP_001136036.2:p.Ile392Val
NM_001379270.1:c.1174A>G (CNGA1) MANE Select	NP_001366199.1:p.Ile392Val