Canonical Allele Identifier: CA1974743
Gene: CHRNA1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.174764431T>C
GRCh37 chr2:g.175629159T>C
gnomAD v2:
2:175629159 T / C
gnomAD v3:
2:174764431 T / C
gnomAD v4:
chr2-174764431-T-C
Joint Max Group AF 0.00471737 (MID)
Genomes Max Group AF 0.00295235 (AMR)
Exomes Max Group AF 0.0046584 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174764431T>C , CM000664.2:g.174764431T>C GRCh38
NC_000002.11:g.175629159T>C , CM000664.1:g.175629159T>C GRCh37
NC_000002.10:g.175337405T>C NCBI36
NG_008172.1:g.5042A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636168.2:c.-446-4798A>G ENSP00000490338.2:n.-446-4798A>G
ENST00000672640.1:c.-650A>G ENSP00000500507.1:n.-650A>G
ENST00000261007.9:c.-37A>G ENSP00000261007.5:n.-37A>G
ENST00000348749.9:c.-37A>G MANE Select ENSP00000261008.5:n.-37A>G
ENST00000409323.1:c.-37A>G ENSP00000386684.1:n.-37A>G
NM_000079.3:c.-37A>G NP_000070.1:n.-37A>G
NM_001039523.2:c.-37A>G NP_001034612.1:n.-37A>G
NM_000079.4:c.-37A>G MANE Select NP_000070.1:n.-37A>G
NM_001039523.3:c.-37A>G NP_001034612.1:n.-37A>G
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