Canonical Allele Identifier: CA1975054

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174878113G>C , CM000664.2:g.174878113G>C	GRCh38
NC_000002.11:g.175742841G>C , CM000664.1:g.175742841G>C	GRCh37
NC_000002.10:g.175451087G>C	NCBI36
NG_012642.1:g.132330C>G
NG_012642.2:g.132330C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409900.9:c.276C>G MANE Select	ENSP00000386741.4:p.Thr92=
ENST00000425395.6:c.105-31156C>G	ENSP00000405270.2:n.105-31156C>G
ENST00000444573.2:c.120C>G	ENSP00000392603.2:p.Thr40=
ENST00000451799.2:c.120C>G	ENSP00000416316.2:p.Thr40=
ENST00000469597.2:c.74C>G	ENSP00000498417.1:p.Pro25Arg
ENST00000488080.6:n.115-2248C>G
ENST00000650734.1:c.*176C>G	ENSP00000498742.1:n.*176C>G
ENST00000650770.1:c.*190C>G	ENSP00000499036.1:n.*190C>G
ENST00000651063.1:n.327C>G
ENST00000651246.1:c.-133C>G	ENSP00000498484.1:n.-133C>G
ENST00000651315.1:c.-133C>G	ENSP00000498692.1:n.-133C>G
ENST00000651373.1:c.-133C>G	ENSP00000499174.1:n.-133C>G
ENST00000651501.1:c.105-31156C>G	ENSP00000498894.1:n.105-31156C>G
ENST00000651580.1:c.120C>G	ENSP00000498631.1:p.Thr40=
ENST00000651599.1:c.120C>G	ENSP00000498535.1:p.Thr40=
ENST00000651803.1:c.*190C>G	ENSP00000499007.1:n.*190C>G
ENST00000651971.1:c.*76C>G	ENSP00000499035.1:n.*76C>G
ENST00000652154.1:n.252C>G
ENST00000652208.1:c.120C>G	ENSP00000498475.1:p.Thr40=
ENST00000652434.1:c.237C>G	ENSP00000498549.1:p.Thr79=
ENST00000652437.1:n.419C>G
ENST00000652674.1:c.-133C>G	ENSP00000498599.1:n.-133C>G
ENST00000652734.1:n.173C>G
ENST00000652756.1:c.120C>G	ENSP00000498281.1:p.Thr40=
ENST00000652768.1:n.168C>G
ENST00000409156.7:c.276C>G	ENSP00000386470.3:p.Thr92=
ENST00000409900.7:c.276C>G	ENSP00000386741.3:p.Thr92=
ENST00000425395.5:c.*101-31156C>G	ENSP00000405270.1:n.*101-31156C>G
ENST00000469597.1:n.381C>G
ENST00000488080.5:n.401-31156C>G
ENST00000490654.1:n.251C>G
NM_001025201.3:c.276C>G	NP_001020372.2:p.Thr92=
NM_001822.5:c.276C>G	NP_001813.1:p.Thr92=
NR_038133.1:n.416-31156C>G
NM_001025201.4:c.276C>G	NP_001020372.2:p.Thr92=
NM_001371513.1:c.276C>G	NP_001358442.1:p.Thr92=
NM_001371514.1:c.327C>G	NP_001358443.1:p.Thr109=
NM_001822.7:c.276C>G MANE Select	NP_001813.1:p.Thr92=
NR_038133.2:n.418-31156C>G