Canonical Allele Identifier: CA1975073

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174915081T>C , CM000664.2:g.174915081T>C	GRCh38
NC_000002.11:g.175779809T>C , CM000664.1:g.175779809T>C	GRCh37
NC_000002.10:g.175488055T>C	NCBI36
NG_012642.1:g.95362A>G
NG_012642.2:g.95362A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001822.7:c.237A>G MANE Select	NP_001813.1:p.Pro79=
ENST00000409900.9:c.237A>G MANE Select	ENSP00000386741.4:p.Pro79=
NM_001025201.3:c.237A>G	NP_001020372.2:p.Pro79=
NM_001025201.4:c.237A>G	NP_001020372.2:p.Pro79=
NM_001371513.1:c.237A>G	NP_001358442.1:p.Pro79=
NM_001371514.1:c.288A>G	NP_001358443.1:p.Pro96=
NM_001822.5:c.237A>G	NP_001813.1:p.Pro79=
NR_038133.1:n.392A>G
NR_038133.2:n.394A>G
ENST00000409156.7:c.237A>G	ENSP00000386470.3:p.Pro79=
ENST00000409900.7:c.237A>G	ENSP00000386741.3:p.Pro79=
ENST00000425395.5:c.*77A>G	ENSP00000405270.1:n.*77A>G
ENST00000425395.6:c.81A>G	ENSP00000405270.2:p.Pro27=
ENST00000444573.2:c.81A>G	ENSP00000392603.2:p.Pro27=
ENST00000451799.1:c.*260A>G	ENSP00000416316.1:n.*260A>G
ENST00000451799.2:c.81A>G	ENSP00000416316.2:p.Pro27=
ENST00000469597.1:n.366-36953A>G
ENST00000469597.2:c.59-36953A>G	ENSP00000498417.1:n.59-36953A>G
ENST00000488080.5:n.377A>G
ENST00000488080.6:n.91A>G
ENST00000490654.1:n.212A>G
ENST00000650734.1:c.*137A>G	ENSP00000498742.1:n.*137A>G
ENST00000650770.1:c.*151A>G	ENSP00000499036.1:n.*151A>G
ENST00000651063.1:n.288A>G
ENST00000651501.1:c.81A>G	ENSP00000498894.1:p.Pro27=
ENST00000651580.1:c.81A>G	ENSP00000498631.1:p.Pro27=
ENST00000651599.1:c.81A>G	ENSP00000498535.1:p.Pro27=
ENST00000651803.1:c.*151A>G	ENSP00000499007.1:n.*151A>G
ENST00000651971.1:c.*37A>G	ENSP00000499035.1:n.*37A>G
ENST00000652154.1:n.213A>G
ENST00000652208.1:c.81A>G	ENSP00000498475.1:p.Pro27=
ENST00000652434.1:c.198A>G	ENSP00000498549.1:p.Pro66=
ENST00000652437.1:n.380A>G
ENST00000652756.1:c.81A>G	ENSP00000498281.1:p.Pro27=