Canonical Allele Identifier: CA15567465
Gene: CHRNA6 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.42753056G>C
GRCh37 chr8:g.42608199G>C
gnomAD v2:
8:42608199 G / C
gnomAD v3:
8:42753056 G / C
gnomAD v4:
chr8-42753056-G-C
Joint Max Group AF 0.76427762 (AFR)
Genomes Max Group AF 0.75907959 (AFR)
Exomes Max Group AF 0.7692327 (AFR)
dbSNP:
2304297
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42753056G>C , CM000670.2:g.42753056G>C GRCh38
NC_000008.10:g.42608199G>C , CM000670.1:g.42608199G>C GRCh37
NC_000008.9:g.42727356G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000276410.7:c.*123C>G MANE Select ENSP00000276410.3:n.*123C>G
ENST00000276410.6:c.*123C>G ENSP00000276410.2:n.*123C>G
ENST00000534622.5:c.*123C>G ENSP00000433871.1:n.*123C>G
NM_001199279.1:c.*123C>G NP_001186208.1:n.*123C>G
NM_004198.3:c.*123C>G MANE Select NP_004189.1:n.*123C>G
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