Canonical Allele Identifier: CA2610766172
Gene: CALHM1 HGNC NCBI

Linked Data

gnomAD v4: 10-103454009-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103454009G>A , CM000672.2:g.103454009G>A GRCh38
NC_000010.10:g.105213766G>A , CM000672.1:g.105213766G>A GRCh37
NC_000010.9:g.105203756G>A NCBI36
NG_016855.1:g.9883C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329905.6:c.*1253C>T MANE Select ENSP00000329926.6:n.*1253C>T
ENST00000329905.5:c.*1253C>T ENSP00000329926.5:n.*1253C>T
NM_001001412.3:c.*1253C>T NP_001001412.3:n.*1253C>T
NM_001001412.4:c.*1253C>T MANE Select NP_001001412.3:n.*1253C>T
Search 100 bp 5'
Search 100 bp 3'