Canonical Allele Identifier: CA221614292
Gene: CHRM4 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.46384943C>T
GRCh37 chr11:g.46406493C>T
gnomAD v2:
11:46406493 C / T
gnomAD v3:
11:46384943 C / T
gnomAD v4:
chr11-46384943-C-T
Joint Max Group AF 0.02054898 (NFE)
Genomes Max Group AF 0.02100615 (NFE)
Exomes Max Group AF 0.02036784 (NFE)
dbSNP:
72910092
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46384943C>T , CM000673.2:g.46384943C>T GRCh38
NC_000011.9:g.46406493C>T , CM000673.1:g.46406493C>T GRCh37
NC_000011.8:g.46363069C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682254.1:c.*175G>A MANE Select ENSP00000507561.1:n.*175G>A
NM_000741.3:c.*175G>A NP_000732.2:n.*175G>A
NM_000741.4:c.*175G>A NP_000732.2:n.*175G>A
NM_001366692.1:c.*175G>A NP_001353621.1:n.*175G>A
NM_000741.5:c.*175G>A MANE Select NP_000732.2:n.*175G>A
NM_001366692.2:c.*175G>A NP_001353621.1:n.*175G>A
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