Canonical Allele Identifier: CA13167656
Gene: CALHM1 HGNC NCBI
COSMIC:
COSN26731209 (not active)
gnomAD v2:
10:105214932 T / C
gnomAD v3:
10:103455175 T / C
gnomAD v4:
chr10-103455175-T-C
Joint Max Group AF 0.46231598 (EAS)
Genomes Max Group AF 0.41757086 (EAS)
Exomes Max Group AF 0.46705229 (EAS)
dbSNP:
729211
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103455175T>C , CM000672.2:g.103455175T>C GRCh38
NC_000010.10:g.105214932T>C , CM000672.1:g.105214932T>C GRCh37
NC_000010.9:g.105204922T>C NCBI36
NG_016855.1:g.8717A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.*87A>G MANE Select ENSP00000329926.6:n.*87A>G
ENST00000329905.5:c.*87A>G ENSP00000329926.5:n.*87A>G
NM_001001412.3:c.*87A>G NP_001001412.3:n.*87A>G
NM_001001412.4:c.*87A>G MANE Select NP_001001412.3:n.*87A>G
Search 100 bp 5'
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