Canonical Allele Identifier: CA1308865711
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174824510T= , CM000664.2:g.174824510T= GRCh38
NC_000002.11:g.175689238T= , CM000664.1:g.175689238T= GRCh37
NC_000002.10:g.175397484T= NCBI36
NG_012642.1:g.185933A=
NG_012642.2:g.185933A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.261A= ENSP00000295497.7:p.Thr87=
ENST00000444394.7:c.261A= ENSP00000411911.2:p.Thr87=
ENST00000295497.12:c.261A= ENSP00000295497.7:p.Thr87=
ENST00000409089.7:c.-40A= ENSP00000386322.3:n.-40A=
ENST00000409900.9:c.636A= MANE Select ENSP00000386741.4:p.Thr212=
ENST00000413882.6:c.90A= ENSP00000410496.2:p.Thr30=
ENST00000425395.6:c.*83A= ENSP00000405270.2:n.*83A=
ENST00000443238.6:c.114A= ENSP00000409798.2:p.Thr38=
ENST00000444394.6:c.261A= ENSP00000411911.2:p.Thr87=
ENST00000444573.2:c.480A= ENSP00000392603.2:p.Thr160=
ENST00000451799.2:c.480A= ENSP00000416316.2:p.Thr160=
ENST00000469597.2:c.*284A= ENSP00000498417.1:n.*284A=
ENST00000488080.6:n.279A=
ENST00000650731.1:c.-40A= ENSP00000499146.1:n.-40A=
ENST00000650734.1:c.*536A= ENSP00000498742.1:n.*536A=
ENST00000650770.1:c.*550A= ENSP00000499036.1:n.*550A=
ENST00000650938.1:c.160A=
ENST00000651246.1:c.228A= ENSP00000498484.1:p.Thr76=
ENST00000651315.1:c.228A= ENSP00000498692.1:p.Thr76=
ENST00000651373.1:c.150A= ENSP00000499174.1:p.Thr50=
ENST00000651501.1:c.*83A= ENSP00000498894.1:n.*83A=
ENST00000651580.1:c.*215A= ENSP00000498631.1:n.*215A=
ENST00000651599.1:c.*120A= ENSP00000498535.1:n.*120A=
ENST00000651717.1:c.253-12028A= ENSP00000499124.1:n.253-12028A=
ENST00000651803.1:c.*628A= ENSP00000499007.1:n.*628A=
ENST00000651971.1:c.*436A= ENSP00000499035.1:n.*436A=
ENST00000652036.1:c.261A= ENSP00000499139.1:p.Thr87=
ENST00000652154.1:n.534A=
ENST00000652208.1:c.480A= ENSP00000498475.1:p.Thr160=
ENST00000652434.1:c.597A= ENSP00000498549.1:p.Thr199=
ENST00000652437.1:n.779A=
ENST00000652674.1:c.*120A= ENSP00000498599.1:n.*120A=
ENST00000652734.1:n.533A=
ENST00000652756.1:c.480A= ENSP00000498281.1:p.Thr160=
ENST00000652768.1:n.528A=
ENST00000295497.11:c.261A= ENSP00000295497.7:p.Thr87=
ENST00000409089.6:c.-40A= ENSP00000386322.2:n.-40A=
ENST00000409156.7:c.558A= ENSP00000386470.3:p.Thr186=
ENST00000409597.5:c.84A= ENSP00000386469.1:p.Thr28=
ENST00000409900.7:c.636A= ENSP00000386741.3:p.Thr212=
ENST00000413882.5:c.90A= ENSP00000410496.1:p.Thr30=
ENST00000425395.5:c.*187A= ENSP00000405270.1:n.*187A=
ENST00000443238.5:c.114A= ENSP00000409798.1:p.Thr38=
ENST00000444394.5:c.-40A= ENSP00000411911.1:n.-40A=
ENST00000444573.1:c.261A= ENSP00000392603.1:p.Thr87=
ENST00000485882.1:n.95A=
ENST00000488080.5:n.487A=
NM_001025201.3:c.558A= NP_001020372.2:p.Thr186=
NM_001206602.1:c.261A= NP_001193531.1:p.Thr87=
NM_001822.5:c.636A= NP_001813.1:p.Thr212=
NR_038133.1:n.502A=
NM_001025201.4:c.558A= NP_001020372.2:p.Thr186=
NM_001206602.2:c.261A= NP_001193531.1:p.Thr87=
NM_001371513.1:c.636A= NP_001358442.1:p.Thr212=
NM_001371514.1:c.687A= NP_001358443.1:p.Thr229=
NM_001822.7:c.636A= MANE Select NP_001813.1:p.Thr212=
NR_038133.2:n.504A=