Canonical Allele Identifier: CA212376396
Gene: CALHM1 HGNC NCBI

Linked Data

dbSNP Id: rs370649673
gnomAD v2: 10-105213771-G-A
gnomAD v3: 10-103454014-G-A
gnomAD v4: 10-103454014-G-A
MyVariant Identifiers: chr10:g.105213771G>A (hg19) chr10:g.103454014G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103454014G>A , CM000672.2:g.103454014G>A GRCh38
NC_000010.10:g.105213771G>A , CM000672.1:g.105213771G>A GRCh37
NC_000010.9:g.105203761G>A NCBI36
NG_016855.1:g.9878C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329905.6:c.*1248C>T MANE Select ENSP00000329926.6:n.*1248C>T
ENST00000329905.5:c.*1248C>T ENSP00000329926.5:n.*1248C>T
NM_001001412.3:c.*1248C>T NP_001001412.3:n.*1248C>T
NM_001001412.4:c.*1248C>T MANE Select NP_001001412.3:n.*1248C>T
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