Canonical Allele Identifier: CA659124329
Gene: CALHM1 HGNC NCBI

Linked Data

dbSNP Id: rs1338490011
gnomAD v3: 10-103454023-A-G
gnomAD v4: 10-103454023-A-G
MyVariant Identifiers: chr10:g.105213780A>G (hg19) chr10:g.103454023A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103454023A>G , CM000672.2:g.103454023A>G GRCh38
NC_000010.10:g.105213780A>G , CM000672.1:g.105213780A>G GRCh37
NC_000010.9:g.105203770A>G NCBI36
NG_016855.1:g.9869T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000329905.6:c.*1239T>C MANE Select ENSP00000329926.6:n.*1239T>C
ENST00000329905.5:c.*1239T>C ENSP00000329926.5:n.*1239T>C
NM_001001412.3:c.*1239T>C NP_001001412.3:n.*1239T>C
NM_001001412.4:c.*1239T>C MANE Select NP_001001412.3:n.*1239T>C
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