Canonical Allele Identifier: CA5674721
Gene: CALHM1 HGNC NCBI

Linked Data

dbSNP Id: rs200862357
ExAC: 10:105218173 G / A
gnomAD v2: 10-105218173-G-A
gnomAD v3: 10-103458416-G-A
gnomAD v4: 10-103458416-G-A
MyVariant Identifiers: chr10:g.105218173G>A (hg19) chr10:g.103458416G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458416G>A , CM000672.2:g.103458416G>A GRCh38
NC_000010.10:g.105218173G>A , CM000672.1:g.105218173G>A GRCh37
NC_000010.9:g.105208163G>A NCBI36
NG_016855.1:g.5476C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.336C>T MANE Select ENSP00000329926.6:p.Val112=
ENST00000329905.5:c.336C>T ENSP00000329926.5:p.Val112=
NM_001001412.3:c.336C>T NP_001001412.3:p.Val112=
NM_001001412.4:c.336C>T MANE Select NP_001001412.3:p.Val112=
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