Canonical Allele Identifier: CA12836050
Gene: CHRNA6 HGNC NCBI
COSMIC:
COSN15323464 (not active)
MyVariant.info:
GRCh38 chr8:g.42753436C>T
GRCh37 chr8:g.42608579C>T
gnomAD v2:
8:42608579 C / T
gnomAD v3:
8:42753436 C / T
gnomAD v4:
chr8-42753436-C-T
Joint Max Group AF 0.72678024 (AFR)
Genomes Max Group AF 0.72323044 (AFR)
Exomes Max Group AF 0.72780036 (AFR)
dbSNP:
7812298
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42753436C>T , CM000670.2:g.42753436C>T GRCh38
NC_000008.10:g.42608579C>T , CM000670.1:g.42608579C>T GRCh37
NC_000008.9:g.42727736C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000276410.7:c.1354-126G>A MANE Select ENSP00000276410.3:n.1354-126G>A
ENST00000276410.6:c.1354-126G>A ENSP00000276410.2:n.1354-126G>A
ENST00000534622.5:c.1309-126G>A ENSP00000433871.1:n.1309-126G>A
NM_001199279.1:c.1309-126G>A NP_001186208.1:n.1309-126G>A
NM_004198.3:c.1354-126G>A MANE Select NP_004189.1:n.1354-126G>A
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