Canonical Allele Identifier: CA5674719
Gene: CALHM1 HGNC NCBI

Linked Data

dbSNP Id: rs748726151
ExAC: 10:105218168 C / CA
gnomAD v2: 10-105218168-C-CA
gnomAD v3: 10-103458411-C-CA
gnomAD v4: 10-103458411-C-CA
MyVariant Identifiers: chr10:g.105218168_105218169insA (hg19) chr10:g.103458411_103458412insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103458412dup , CM000672.2:g.103458412dup GRCh38
NC_000010.10:g.105218169dup , CM000672.1:g.105218169dup GRCh37
NC_000010.9:g.105208159dup NCBI36
NG_016855.1:g.5480dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000329905.6:c.340dup MANE Select ENSP00000329926.6:p.Trp114LeufsTer?
ENST00000329905.5:c.340dup ENSP00000329926.5:p.Trp114LeufsTer?
NM_001001412.3:c.340dup NP_001001412.3:p.Trp114LeufsTer?
NM_001001412.4:c.340dup MANE Select NP_001001412.3:p.Trp114LeufsTer?
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