Canonical Allele Identifier: CA378040462
Gene: CALHM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458371A>C , CM000672.2:g.103458371A>C GRCh38
NC_000010.10:g.105218128A>C , CM000672.1:g.105218128A>C GRCh37
NC_000010.9:g.105208118A>C NCBI36
NG_016855.1:g.5521T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.381T>G MANE Select ENSP00000329926.6:p.Cys127Trp
ENST00000329905.5:c.381T>G ENSP00000329926.5:p.Cys127Trp
NM_001001412.3:c.381T>G NP_001001412.3:p.Cys127Trp
NM_001001412.4:c.381T>G MANE Select NP_001001412.3:p.Cys127Trp