Canonical Allele Identifier: CA378040468
Gene: CALHM1 HGNC NCBI

Linked Data

gnomAD v4: 10-103458373-A-G
MyVariant Identifiers: chr10:g.105218130A>G (hg19) chr10:g.103458373A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458373A>G , CM000672.2:g.103458373A>G GRCh38
NC_000010.10:g.105218130A>G , CM000672.1:g.105218130A>G GRCh37
NC_000010.9:g.105208120A>G NCBI36
NG_016855.1:g.5519T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.379T>C MANE Select ENSP00000329926.6:p.Cys127Arg
ENST00000329905.5:c.379T>C ENSP00000329926.5:p.Cys127Arg
NM_001001412.3:c.379T>C NP_001001412.3:p.Cys127Arg
NM_001001412.4:c.379T>C MANE Select NP_001001412.3:p.Cys127Arg
Search 100 bp 5'
Search 100 bp 3'