Canonical Allele Identifier: CA5674716
Gene: CALHM1 HGNC NCBI

Linked Data

dbSNP Id: rs756487699
ExAC: 10:105218164 C / T
gnomAD v2: 10-105218164-C-T
gnomAD v4: 10-103458407-C-T
MyVariant Identifiers: chr10:g.105218164C>T (hg19) chr10:g.103458407C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458407C>T , CM000672.2:g.103458407C>T GRCh38
NC_000010.10:g.105218164C>T , CM000672.1:g.105218164C>T GRCh37
NC_000010.9:g.105208154C>T NCBI36
NG_016855.1:g.5485G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.345G>A MANE Select ENSP00000329926.6:p.Val115=
ENST00000329905.5:c.345G>A ENSP00000329926.5:p.Val115=
NM_001001412.3:c.345G>A NP_001001412.3:p.Val115=
NM_001001412.4:c.345G>A MANE Select NP_001001412.3:p.Val115=
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