Canonical Allele Identifier: CA1974969

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174846919G>A , CM000664.2:g.174846919G>A	GRCh38
NC_000002.11:g.175711647G>A , CM000664.1:g.175711647G>A	GRCh37
NC_000002.10:g.175419893G>A	NCBI36
NG_012642.1:g.163524C>T
NG_012642.2:g.163524C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001822.7:c.588C>T MANE Select	NP_001813.1:p.Asn196=
ENST00000409900.9:c.588C>T MANE Select	ENSP00000386741.4:p.Asn196=
NM_001025201.3:c.550-22401C>T	NP_001020372.2:n.550-22401C>T
NM_001025201.4:c.550-22401C>T	NP_001020372.2:n.550-22401C>T
NM_001206602.1:c.213C>T	NP_001193531.1:p.Asn71=
NM_001206602.2:c.213C>T	NP_001193531.1:p.Asn71=
NM_001371513.1:c.588C>T	NP_001358442.1:p.Asn196=
NM_001371514.1:c.639C>T	NP_001358443.1:p.Asn213=
NM_001822.5:c.588C>T	NP_001813.1:p.Asn196=
NR_038133.1:n.454C>T
NR_038133.2:n.456C>T
ENST00000295497.11:c.213C>T	ENSP00000295497.7:p.Asn71=
ENST00000295497.12:c.213C>T	ENSP00000295497.7:p.Asn71=
ENST00000295497.13:c.213C>T	ENSP00000295497.7:p.Asn71=
ENST00000409089.6:c.-88C>T	ENSP00000386322.2:n.-88C>T
ENST00000409089.7:c.-88C>T	ENSP00000386322.3:n.-88C>T
ENST00000409156.7:c.550-22401C>T	ENSP00000386470.3:n.550-22401C>T
ENST00000409900.7:c.588C>T	ENSP00000386741.3:p.Asn196=
ENST00000425395.5:c.*139C>T	ENSP00000405270.1:n.*139C>T
ENST00000425395.6:c.*35C>T	ENSP00000405270.2:n.*35C>T
ENST00000443238.5:c.66C>T	ENSP00000409798.1:p.Asn22=
ENST00000443238.6:c.66C>T	ENSP00000409798.2:p.Asn22=
ENST00000444394.5:c.-88C>T	ENSP00000411911.1:n.-88C>T
ENST00000444394.6:c.213C>T	ENSP00000411911.2:p.Asn71=
ENST00000444394.7:c.213C>T	ENSP00000411911.2:p.Asn71=
ENST00000444573.1:c.213C>T	ENSP00000392603.1:p.Asn71=
ENST00000444573.2:c.432C>T	ENSP00000392603.2:p.Asn144=
ENST00000451799.2:c.432C>T	ENSP00000416316.2:p.Asn144=
ENST00000469597.2:c.*236C>T	ENSP00000498417.1:n.*236C>T
ENST00000481174.1:n.219C>T
ENST00000485882.1:n.47C>T
ENST00000488080.5:n.439C>T
ENST00000488080.6:n.231C>T
ENST00000490654.1:n.563C>T
ENST00000650731.1:c.-88C>T	ENSP00000499146.1:n.-88C>T
ENST00000650734.1:c.*488C>T	ENSP00000498742.1:n.*488C>T
ENST00000650770.1:c.*502C>T	ENSP00000499036.1:n.*502C>T
ENST00000650938.1:c.112C>T
ENST00000651063.1:n.639C>T
ENST00000651246.1:c.180C>T	ENSP00000498484.1:p.Asn60=
ENST00000651315.1:c.180C>T	ENSP00000498692.1:p.Asn60=
ENST00000651373.1:c.142-22401C>T	ENSP00000499174.1:n.142-22401C>T
ENST00000651501.1:c.*35C>T	ENSP00000498894.1:n.*35C>T
ENST00000651580.1:c.*167C>T	ENSP00000498631.1:n.*167C>T
ENST00000651599.1:c.*72C>T	ENSP00000498535.1:n.*72C>T
ENST00000651717.1:c.213C>T	ENSP00000499124.1:p.Asn71=
ENST00000651803.1:c.*580C>T	ENSP00000499007.1:n.*580C>T
ENST00000651971.1:c.*388C>T	ENSP00000499035.1:n.*388C>T
ENST00000652036.1:c.213C>T	ENSP00000499139.1:p.Asn71=
ENST00000652154.1:n.526-22401C>T
ENST00000652208.1:c.432C>T	ENSP00000498475.1:p.Asn144=
ENST00000652434.1:c.549C>T	ENSP00000498549.1:p.Asn183=
ENST00000652437.1:n.731C>T
ENST00000652674.1:c.*72C>T	ENSP00000498599.1:n.*72C>T
ENST00000652734.1:n.485C>T
ENST00000652756.1:c.432C>T	ENSP00000498281.1:p.Asn144=
ENST00000652768.1:n.480C>T