Canonical Allele Identifier: CA5674694
Gene: CALHM1 HGNC NCBI

Linked Data

dbSNP Id: rs777732386
ExAC: 10:105218083 G / C
gnomAD v2: 10-105218083-G-C
gnomAD v4: 10-103458326-G-C
MyVariant Identifiers: chr10:g.105218083G>C (hg19) chr10:g.103458326G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458326G>C , CM000672.2:g.103458326G>C GRCh38
NC_000010.10:g.105218083G>C , CM000672.1:g.105218083G>C GRCh37
NC_000010.9:g.105208073G>C NCBI36
NG_016855.1:g.5566C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.426C>G MANE Select ENSP00000329926.6:p.Ser142Arg
ENST00000329905.5:c.426C>G ENSP00000329926.5:p.Ser142Arg
NM_001001412.3:c.426C>G NP_001001412.3:p.Ser142Arg
NM_001001412.4:c.426C>G MANE Select NP_001001412.3:p.Ser142Arg
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