Canonical Allele Identifier: CA378040498
Gene: CALHM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458385T>G , CM000672.2:g.103458385T>G GRCh38
NC_000010.10:g.105218142T>G , CM000672.1:g.105218142T>G GRCh37
NC_000010.9:g.105208132T>G NCBI36
NG_016855.1:g.5507A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.367A>C MANE Select ENSP00000329926.6:p.Lys123Gln
ENST00000329905.5:c.367A>C ENSP00000329926.5:p.Lys123Gln
NM_001001412.3:c.367A>C NP_001001412.3:p.Lys123Gln
NM_001001412.4:c.367A>C MANE Select NP_001001412.3:p.Lys123Gln