Canonical Allele Identifier: CA378040397
Gene: CALHM1 HGNC NCBI

Linked Data

gnomAD v4: 10-103458339-A-G
MyVariant Identifiers: chr10:g.105218096A>G (hg19) chr10:g.103458339A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458339A>G , CM000672.2:g.103458339A>G GRCh38
NC_000010.10:g.105218096A>G , CM000672.1:g.105218096A>G GRCh37
NC_000010.9:g.105208086A>G NCBI36
NG_016855.1:g.5553T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.413T>C MANE Select ENSP00000329926.6:p.Leu138Pro
ENST00000329905.5:c.413T>C ENSP00000329926.5:p.Leu138Pro
NM_001001412.3:c.413T>C NP_001001412.3:p.Leu138Pro
NM_001001412.4:c.413T>C MANE Select NP_001001412.3:p.Leu138Pro
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