Canonical Allele Identifier: CA13485206
Gene: CHRM1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.62909330C>T
GRCh37 chr11:g.62676802C>T
gnomAD v2:
11:62676802 C / T
gnomAD v3:
11:62909330 C / T
gnomAD v4:
chr11-62909330-C-T
Joint Max Group AF 0.10374834 (AFR)
Genomes Max Group AF 0.10399832 (AFR)
Exomes Max Group AF 0.08056169 (AFR)
dbSNP:
11823728
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62909330C>T , CM000673.2:g.62909330C>T GRCh38
NC_000011.9:g.62676802C>T , CM000673.1:g.62676802C>T GRCh37
NC_000011.8:g.62433378C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000306960.4:c.*388G>A MANE Select ENSP00000306490.3:n.*388G>A
ENST00000306960.3:c.*388G>A ENSP00000306490.3:n.*388G>A
NM_000738.2:c.*388G>A NP_000729.2:n.*388G>A
XM_011544742.1:c.*388G>A XP_011543044.1:n.*388G>A
XM_011544742.2:c.*388G>A XP_011543044.1:n.*388G>A
NM_000738.3:c.*388G>A MANE Select NP_000729.2:n.*388G>A
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