Canonical Allele Identifier: CA1308854880
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174800138T= , CM000664.2:g.174800138T= GRCh38
NC_000002.11:g.175664866T= , CM000664.1:g.175664866T= GRCh37
NC_000002.10:g.175373112T= NCBI36
NG_012642.1:g.210305A=
NG_012642.2:g.210305A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.983A= ENSP00000295497.7:p.Lys328=
ENST00000295497.12:c.983A= ENSP00000295497.7:p.Lys328=
ENST00000409900.9:c.1358A= MANE Select ENSP00000386741.4:p.Lys453=
ENST00000413882.6:c.812A= ENSP00000410496.2:p.Lys271=
ENST00000443238.6:c.836A= ENSP00000409798.2:p.Lys279=
ENST00000488080.6:n.1001A=
ENST00000650731.1:c.683A= ENSP00000499146.1:p.Lys228=
ENST00000650938.1:c.744A=
ENST00000651246.1:c.950A= ENSP00000498484.1:p.Lys317=
ENST00000651501.1:c.*805A= ENSP00000498894.1:n.*805A=
ENST00000651717.1:c.*634A= ENSP00000499124.1:n.*634A=
ENST00000652036.1:c.1034A= ENSP00000499139.1:p.Lys345=
ENST00000295497.11:c.983A= ENSP00000295497.7:p.Lys328=
ENST00000409156.7:c.1280A= ENSP00000386470.3:p.Lys427=
ENST00000409597.5:c.806A= ENSP00000386469.1:p.Lys269=
ENST00000409900.7:c.1358A= ENSP00000386741.3:p.Lys453=
ENST00000488080.5:n.1209A=
ENST00000492964.1:n.501A=
NM_001025201.3:c.1280A= NP_001020372.2:p.Lys427=
NM_001206602.1:c.983A= NP_001193531.1:p.Lys328=
NM_001822.5:c.1358A= NP_001813.1:p.Lys453=
NR_038133.1:n.1224A=
NM_001025201.4:c.1280A= NP_001020372.2:p.Lys427=
NM_001206602.2:c.983A= NP_001193531.1:p.Lys328=
NM_001371513.1:c.1358A= NP_001358442.1:p.Lys453=
NM_001371514.1:c.1409A= NP_001358443.1:p.Lys470=
NM_001822.7:c.1358A= MANE Select NP_001813.1:p.Lys453=
NR_038133.2:n.1226A=