Canonical Allele Identifier: CA471499616
Gene: CALHM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.105218080C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458323C>G , CM000672.2:g.103458323C>G GRCh38
NC_000010.10:g.105218080C>G , CM000672.1:g.105218080C>G GRCh37
NC_000010.9:g.105208070C>G NCBI36
NG_016855.1:g.5569G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.429G>C MANE Select ENSP00000329926.6:p.Leu143=
ENST00000329905.5:c.429G>C ENSP00000329926.5:p.Leu143=
NM_001001412.3:c.429G>C NP_001001412.3:p.Leu143=
NM_001001412.4:c.429G>C MANE Select NP_001001412.3:p.Leu143=