Canonical Allele Identifier: CA378040454

Gene: CALHM1

Linked Data

• MyVariant Identifiers: chr10:g.105218124A>G (hg19) ; chr10:g.103458367A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103458367A>G , CM000672.2:g.103458367A>G	GRCh38
NC_000010.10:g.105218124A>G , CM000672.1:g.105218124A>G	GRCh37
NC_000010.9:g.105208114A>G	NCBI36
NG_016855.1:g.5525T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329905.6:c.385T>C MANE Select	ENSP00000329926.6:p.Phe129Leu
ENST00000329905.5:c.385T>C	ENSP00000329926.5:p.Phe129Leu
NM_001001412.3:c.385T>C	NP_001001412.3:p.Phe129Leu
NM_001001412.4:c.385T>C MANE Select	NP_001001412.3:p.Phe129Leu