Canonical Allele Identifier: CA5674708

Gene: CALHM1

Linked Data

• dbSNP Id: rs139690169
• ExAC: 10:105218148 C / T
• gnomAD v2: 10-105218148-C-T
• gnomAD v3: 10-103458391-C-T
• gnomAD v4: 10-103458391-C-T
• COSMIC: COSM914409
• MyVariant Identifiers: chr10:g.105218148C>T (hg19) ; chr10:g.103458391C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103458391C>T , CM000672.2:g.103458391C>T	GRCh38
NC_000010.10:g.105218148C>T , CM000672.1:g.105218148C>T	GRCh37
NC_000010.9:g.105208138C>T	NCBI36
NG_016855.1:g.5501G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329905.6:c.361G>A MANE Select	ENSP00000329926.6:p.Asp121Asn
ENST00000329905.5:c.361G>A	ENSP00000329926.5:p.Asp121Asn
NM_001001412.3:c.361G>A	NP_001001412.3:p.Asp121Asn
NM_001001412.4:c.361G>A MANE Select	NP_001001412.3:p.Asp121Asn