Canonical Allele Identifier: CA2911114
Gene: CNGA1 HGNC NCBI
NIPAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003403
ClinVar RCV Id: RCV001299951
dbSNP Id: rs777818344
gnomAD v2: 4-47939304-T-C
gnomAD v3: 4-47937287-T-C
gnomAD v4: 4-47937287-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.47937287T>C , CM000666.2:g.47937287T>C GRCh38
NC_000004.11:g.47939304T>C , CM000666.1:g.47939304T>C GRCh37
NC_000004.10:g.47634061T>C NCBI36
NG_009193.1:g.80658A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402813.9:c.1195A>G (CNGA1) ENSP00000384264.5:p.Met399Val
ENST00000420489.7:c.1195A>G (CNGA1) ENSP00000389881.3:p.Met399Val
ENST00000514170.7:c.1195A>G (CNGA1) MANE Select ENSP00000426862.3:p.Met399Val
ENST00000358519.8:c.1207A>G (CNGA1) ENSP00000351320.4:p.Met403Val
ENST00000402813.7:c.1414A>G (CNGA1) ENSP00000384264.3:p.Met472Val
ENST00000420489.6:c.1207A>G (CNGA1) ENSP00000389881.2:p.Met403Val
ENST00000500571.2:n.479-21737T>C (NIPAL1)
ENST00000513724.1:n.563+22583T>C (NIPAL1)
ENST00000514170.5:c.1207A>G (CNGA1) ENSP00000426862.1:p.Met403Val
ENST00000544810.5:c.1414A>G (CNGA1) ENSP00000443401.2:p.Met472Val
NM_000087.3:c.1207A>G (CNGA1) NP_000078.2:p.Met403Val
NM_001142564.1:c.1414A>G (CNGA1) NP_001136036.1:p.Met472Val
NR_125879.1:n.479-21737T>C
XM_005248049.3:c.1207A>G (CNGA1) XP_005248106.1:p.Met403Val
XM_011513623.1:c.1207A>G (CNGA1) XP_011511925.1:p.Met403Val
XM_005248049.4:c.1432A>G (CNGA1) XP_005248106.2:p.Met478Val
XM_011513623.2:c.1207A>G (CNGA1) XP_011511925.1:p.Met403Val
XM_017007712.1:c.1207A>G (CNGA1) XP_016863201.1:p.Met403Val
NM_000087.4:c.1207A>G (CNGA1) NP_000078.2:p.Met403Val
NM_001375386.1:c.1207A>G (CNGA1) NP_001362315.1:p.Met403Val
NM_000087.5:c.1195A>G (CNGA1) NP_000078.3:p.Met399Val
NM_001142564.2:c.1195A>G (CNGA1) NP_001136036.2:p.Met399Val
NM_001379270.1:c.1195A>G (CNGA1) MANE Select NP_001366199.1:p.Met399Val