Canonical Allele Identifier: CA2911335

Gene: CNGA1 NIPAL1

Linked Data

• ClinVar Variation Id: 225315
• ClinVar RCV Id: RCV000490509 ; RCV001008796 ; RCV002500683 ; RCV001073700
• dbSNP Id: rs749012133
• ExAC: 4:47951883 AG / A
• gnomAD v2: 4-47951883-AG-A
• gnomAD v3: 4-47949866-AG-A
• gnomAD v4: 4-47949866-AG-A
• MyVariant Identifiers: chr4:g.47951884del (hg19) ; chr4:g.47949867del (hg38)
• PubMed: PMID:7479749 ; PMID:23462753

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47949867del , CM000666.2:g.47949867del	GRCh38
NC_000004.11:g.47951884del , CM000666.1:g.47951884del	GRCh37
NC_000004.10:g.47646641del	NCBI36
NG_009193.1:g.68078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402813.9:c.253del (CNGA1)	ENSP00000384264.5:p.Leu85PhefsTer4
ENST00000420489.7:c.253del (CNGA1)	ENSP00000389881.3:p.Leu85PhefsTer4
ENST00000504722.6:c.253del (CNGA1)	ENSP00000423721.2:p.Leu85PhefsTer4
ENST00000513178.2:c.253del (CNGA1)	ENSP00000423327.2:p.Leu85PhefsTer4
ENST00000514170.7:c.253del (CNGA1) MANE Select	ENSP00000426862.3:p.Leu85PhefsTer4
ENST00000514520.6:c.253del (CNGA1)	ENSP00000421110.2:p.Leu85PhefsTer4
ENST00000358519.8:c.265del (CNGA1)	ENSP00000351320.4:p.Leu89PhefsTer4
ENST00000402813.7:c.472del (CNGA1)	ENSP00000384264.3:p.Leu158PhefsTer4
ENST00000420489.6:c.265del (CNGA1)	ENSP00000389881.2:p.Leu89PhefsTer4
ENST00000500571.2:n.479-9157del (NIPAL1)
ENST00000504722.5:c.265del (CNGA1)	ENSP00000423721.1:p.Leu89PhefsTer4
ENST00000506118.1:n.253del (CNGA1)
ENST00000513178.1:c.265del (CNGA1)	ENSP00000423327.1:p.Leu89PhefsTer4
ENST00000513724.1:n.563+35163del (NIPAL1)
ENST00000514170.5:c.265del (CNGA1)	ENSP00000426862.1:p.Leu89PhefsTer4
ENST00000514520.5:c.265del (CNGA1)	ENSP00000421110.1:p.Leu89PhefsTer4
ENST00000544810.5:c.472del (CNGA1)	ENSP00000443401.2:p.Leu158PhefsTer4
NM_000087.3:c.265del (CNGA1)	NP_000078.2:p.Leu89PhefsTer4
NM_001142564.1:c.472del (CNGA1)	NP_001136036.1:p.Leu158PhefsTer4
NR_125879.1:n.479-9157del
XM_005248049.3:c.265del (CNGA1)	XP_005248106.1:p.Leu89PhefsTer4
XM_011513623.1:c.265del (CNGA1)	XP_011511925.1:p.Leu89PhefsTer4
XM_005248049.4:c.490del (CNGA1)	XP_005248106.2:p.Leu164PhefsTer4
XM_011513623.2:c.265del (CNGA1)	XP_011511925.1:p.Leu89PhefsTer4
XM_017007712.1:c.265del (CNGA1)	XP_016863201.1:p.Leu89PhefsTer4
NM_000087.4:c.265del (CNGA1)	NP_000078.2:p.Leu89PhefsTer4
NM_001375386.1:c.265del (CNGA1)	NP_001362315.1:p.Leu89PhefsTer4
NM_000087.5:c.253del (CNGA1)	NP_000078.3:p.Leu85PhefsTer4
NM_001142564.2:c.253del (CNGA1)	NP_001136036.2:p.Leu85PhefsTer4
NM_001379270.1:c.253del (CNGA1) MANE Select	NP_001366199.1:p.Leu85PhefsTer4