Canonical Allele Identifier: CA1974303
Gene: CHRNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.174748177C>T
GRCh37 chr2:g.175612905C>T
Revel Score:
ENST00000348749 (MANE Select) 0.953
ENST00000261007 0.953
ENST00000409542 0.953
ENST00000409219 0.953
gnomAD v2:
2:175612905 C / T
gnomAD v3:
2:174748177 C / T
gnomAD v4:
chr2-174748177-C-T
Joint Max Group AF 0.00007732 (AMR)
Genomes Max Group AF 0.00003253 (AFR)
Exomes Max Group AF 0.00010427 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174748177C>T , CM000664.2:g.174748177C>T GRCh38
NC_000002.11:g.175612905C>T , CM000664.1:g.175612905C>T GRCh37
NC_000002.10:g.175321151C>T NCBI36
NG_008172.1:g.21296G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636168.2:c.832G>A ENSP00000490338.2:p.Gly278Arg
ENST00000672640.1:c.832G>A ENSP00000500507.1:p.Gly278Arg
ENST00000261007.9:c.1396G>A ENSP00000261007.5:p.Gly466Arg
ENST00000348749.9:c.1321G>A MANE Select ENSP00000261008.5:p.Gly441Arg
ENST00000409219.5:c.1081G>A ENSP00000386611.1:p.Gly361Arg
ENST00000409542.5:c.1075G>A ENSP00000387026.1:p.Gly359Arg
ENST00000435083.5:c.*965G>A ENSP00000395805.1:n.*965G>A
NM_000079.3:c.1321G>A NP_000070.1:p.Gly441Arg
NM_001039523.2:c.1396G>A NP_001034612.1:p.Gly466Arg
XM_017003256.1:c.1417G>A XP_016858745.1:p.Gly473Arg
XM_017003257.1:c.1342G>A XP_016858746.1:p.Gly448Arg
NM_000079.4:c.1321G>A MANE Select NP_000070.1:p.Gly441Arg
NM_001039523.3:c.1396G>A NP_001034612.1:p.Gly466Arg
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