Canonical Allele Identifier: CA14107345
Gene: CHRNA5 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.78565597T>G
GRCh37 chr15:g.78857939T>G
gnomAD v2:
15:78857939 T / G
gnomAD v3:
15:78565597 T / G
gnomAD v4:
chr15-78565597-T-G
Joint Max Group AF 0.34953538 (NFE)
Genomes Max Group AF 0.34643145 (NFE)
Exomes Max Group AF 0.35058403 (NFE)
dbSNP:
55853698
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78565597T>G , CM000677.2:g.78565597T>G GRCh38
NC_000015.9:g.78857939T>G , CM000677.1:g.78857939T>G GRCh37
NC_000015.8:g.76644994T>G NCBI36
NG_023328.1:g.5078T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299565.9:c.-123T>G MANE Select ENSP00000299565.5:n.-123T>G
ENST00000559554.5:c.-123T>G ENSP00000453519.1:n.-123T>G
NM_000745.3:c.-123T>G NP_000736.2:n.-123T>G
NM_001307945.1:c.-123T>G NP_001294874.1:n.-123T>G
XM_005254142.2:c.-123T>G XP_005254199.1:n.-123T>G
NM_001307945.2:c.-123T>G NP_001294874.1:n.-123T>G
NM_000745.4:c.-123T>G MANE Select NP_000736.2:n.-123T>G
NM_001395171.1:c.-123T>G NP_001382100.1:n.-123T>G
NM_001395172.1:c.-123T>G NP_001382101.1:n.-123T>G
NM_001395173.1:c.-123T>G NP_001382102.1:n.-123T>G
NM_001395174.1:c.-123T>G NP_001382103.1:n.-123T>G
NM_001395175.1:c.-123T>G NP_001382104.1:n.-123T>G
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