Canonical Allele Identifier: CA2911096

Gene: CNGA1 NIPAL1

Linked Data

• ClinVar Variation Id: 850020
• ClinVar RCV Id: RCV001054102 ; RCV001073750
• dbSNP Id: rs772867912
• ExAC: 4:47939171 G / GT
• gnomAD v2: 4-47939171-G-GT
• gnomAD v3: 4-47937154-G-GT
• gnomAD v4: 4-47937154-G-GT
• COSMIC: COSM1429896 ; COSM5829920
• MyVariant Identifiers: chr4:g.47939172_47939173insT (hg19) ; chr4:g.47939171_47939172insT (hg19) ; chr4:g.47937155_47937156insT (hg38) ; chr4:g.47937154_47937155insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.47937161dup , CM000666.2:g.47937161dup	GRCh38
NC_000004.11:g.47939178dup , CM000666.1:g.47939178dup	GRCh37
NC_000004.10:g.47633935dup	NCBI36
NG_009193.1:g.80790dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402813.9:c.1327dup (CNGA1)	ENSP00000384264.5:p.Thr443AsnfsTer3
ENST00000420489.7:c.1327dup (CNGA1)	ENSP00000389881.3:p.Thr443AsnfsTer3
ENST00000514170.7:c.1327dup (CNGA1) MANE Select	ENSP00000426862.3:p.Thr443AsnfsTer3
ENST00000358519.8:c.1339dup (CNGA1)	ENSP00000351320.4:p.Thr447AsnfsTer3
ENST00000402813.7:c.1546dup (CNGA1)	ENSP00000384264.3:p.Thr516AsnfsTer3
ENST00000420489.6:c.1339dup (CNGA1)	ENSP00000389881.2:p.Thr447AsnfsTer3
ENST00000500571.2:n.479-21863dup (NIPAL1)
ENST00000513724.1:n.563+22457dup (NIPAL1)
ENST00000514170.5:c.1339dup (CNGA1)	ENSP00000426862.1:p.Thr447AsnfsTer3
ENST00000544810.5:c.1546dup (CNGA1)	ENSP00000443401.2:p.Thr516AsnfsTer3
NM_000087.3:c.1339dup (CNGA1)	NP_000078.2:p.Thr447AsnfsTer3
NM_001142564.1:c.1546dup (CNGA1)	NP_001136036.1:p.Thr516AsnfsTer3
NR_125879.1:n.479-21863dup
XM_005248049.3:c.1339dup (CNGA1)	XP_005248106.1:p.Thr447AsnfsTer3
XM_011513623.1:c.1339dup (CNGA1)	XP_011511925.1:p.Thr447AsnfsTer3
XM_005248049.4:c.1564dup (CNGA1)	XP_005248106.2:p.Thr522AsnfsTer3
XM_011513623.2:c.1339dup (CNGA1)	XP_011511925.1:p.Thr447AsnfsTer3
XM_017007712.1:c.1339dup (CNGA1)	XP_016863201.1:p.Thr447AsnfsTer3
NM_000087.4:c.1339dup (CNGA1)	NP_000078.2:p.Thr447AsnfsTer3
NM_001375386.1:c.1339dup (CNGA1)	NP_001362315.1:p.Thr447AsnfsTer3
NM_000087.5:c.1327dup (CNGA1)	NP_000078.3:p.Thr443AsnfsTer3
NM_001142564.2:c.1327dup (CNGA1)	NP_001136036.2:p.Thr443AsnfsTer3
NM_001379270.1:c.1327dup (CNGA1) MANE Select	NP_001366199.1:p.Thr443AsnfsTer3