Canonical Allele Identifier: CA1308854934
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174800275G= , CM000664.2:g.174800275G= GRCh38
NC_000002.11:g.175665003G= , CM000664.1:g.175665003G= GRCh37
NC_000002.10:g.175373249G= NCBI36
NG_012642.1:g.210168C=
NG_012642.2:g.210168C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.846C= ENSP00000295497.7:p.His282=
ENST00000295497.12:c.846C= ENSP00000295497.7:p.His282=
ENST00000409089.7:c.597C= ENSP00000386322.3:p.His199=
ENST00000409900.9:c.1221C= MANE Select ENSP00000386741.4:p.His407=
ENST00000413882.6:c.675C= ENSP00000410496.2:p.His225=
ENST00000443238.6:c.699C= ENSP00000409798.2:p.His233=
ENST00000488080.6:n.864C=
ENST00000650731.1:c.546C= ENSP00000499146.1:p.His182=
ENST00000650938.1:c.607C=
ENST00000651246.1:c.813C= ENSP00000498484.1:p.His271=
ENST00000651501.1:c.*668C= ENSP00000498894.1:n.*668C=
ENST00000651717.1:c.*497C= ENSP00000499124.1:n.*497C=
ENST00000652036.1:c.897C= ENSP00000499139.1:p.His299=
ENST00000295497.11:c.846C= ENSP00000295497.7:p.His282=
ENST00000409156.7:c.1143C= ENSP00000386470.3:p.His381=
ENST00000409597.5:c.669C= ENSP00000386469.1:p.His223=
ENST00000409900.7:c.1221C= ENSP00000386741.3:p.His407=
ENST00000488080.5:n.1072C=
ENST00000492964.1:n.364C=
NM_001025201.3:c.1143C= NP_001020372.2:p.His381=
NM_001206602.1:c.846C= NP_001193531.1:p.His282=
NM_001822.5:c.1221C= NP_001813.1:p.His407=
NR_038133.1:n.1087C=
NM_001025201.4:c.1143C= NP_001020372.2:p.His381=
NM_001206602.2:c.846C= NP_001193531.1:p.His282=
NM_001371513.1:c.1221C= NP_001358442.1:p.His407=
NM_001371514.1:c.1272C= NP_001358443.1:p.His424=
NM_001822.7:c.1221C= MANE Select NP_001813.1:p.His407=
NR_038133.2:n.1089C=