Canonical Allele Identifier: CA212378295
Gene: CALHM1 HGNC NCBI

Linked Data

dbSNP Id: rs903678698
gnomAD v3: 10-103458330-C-T
gnomAD v4: 10-103458330-C-T
MyVariant Identifiers: chr10:g.105218087C>T (hg19) chr10:g.103458330C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458330C>T , CM000672.2:g.103458330C>T GRCh38
NC_000010.10:g.105218087C>T , CM000672.1:g.105218087C>T GRCh37
NC_000010.9:g.105208077C>T NCBI36
NG_016855.1:g.5562G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.422G>A MANE Select ENSP00000329926.6:p.Gly141Asp
ENST00000329905.5:c.422G>A ENSP00000329926.5:p.Gly141Asp
NM_001001412.3:c.422G>A NP_001001412.3:p.Gly141Asp
NM_001001412.4:c.422G>A MANE Select NP_001001412.3:p.Gly141Asp
Search 100 bp 5'
Search 100 bp 3'