Canonical Allele Identifier: CA1308854930
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174800266C= , CM000664.2:g.174800266C= GRCh38
NC_000002.11:g.175664994C= , CM000664.1:g.175664994C= GRCh37
NC_000002.10:g.175373240C= NCBI36
NG_012642.1:g.210177G=
NG_012642.2:g.210177G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.855G= ENSP00000295497.7:p.Glu285=
ENST00000295497.12:c.855G= ENSP00000295497.7:p.Glu285=
ENST00000409089.7:c.606G= ENSP00000386322.3:p.Glu202=
ENST00000409900.9:c.1230G= MANE Select ENSP00000386741.4:p.Glu410=
ENST00000413882.6:c.684G= ENSP00000410496.2:p.Glu228=
ENST00000443238.6:c.708G= ENSP00000409798.2:p.Glu236=
ENST00000488080.6:n.873G=
ENST00000650731.1:c.555G= ENSP00000499146.1:p.Glu185=
ENST00000650938.1:c.616G=
ENST00000651246.1:c.822G= ENSP00000498484.1:p.Glu274=
ENST00000651501.1:c.*677G= ENSP00000498894.1:n.*677G=
ENST00000651717.1:c.*506G= ENSP00000499124.1:n.*506G=
ENST00000652036.1:c.906G= ENSP00000499139.1:p.Glu302=
ENST00000295497.11:c.855G= ENSP00000295497.7:p.Glu285=
ENST00000409156.7:c.1152G= ENSP00000386470.3:p.Glu384=
ENST00000409597.5:c.678G= ENSP00000386469.1:p.Glu226=
ENST00000409900.7:c.1230G= ENSP00000386741.3:p.Glu410=
ENST00000488080.5:n.1081G=
ENST00000492964.1:n.373G=
NM_001025201.3:c.1152G= NP_001020372.2:p.Glu384=
NM_001206602.1:c.855G= NP_001193531.1:p.Glu285=
NM_001822.5:c.1230G= NP_001813.1:p.Glu410=
NR_038133.1:n.1096G=
NM_001025201.4:c.1152G= NP_001020372.2:p.Glu384=
NM_001206602.2:c.855G= NP_001193531.1:p.Glu285=
NM_001371513.1:c.1230G= NP_001358442.1:p.Glu410=
NM_001371514.1:c.1281G= NP_001358443.1:p.Glu427=
NM_001822.7:c.1230G= MANE Select NP_001813.1:p.Glu410=
NR_038133.2:n.1098G=