Canonical Allele Identifier: CA1308854875
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174800127T= , CM000664.2:g.174800127T= GRCh38
NC_000002.11:g.175664855T= , CM000664.1:g.175664855T= GRCh37
NC_000002.10:g.175373101T= NCBI36
NG_012642.1:g.210316A=
NG_012642.2:g.210316A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.994A= ENSP00000295497.7:p.Ile332=
ENST00000295497.12:c.994A= ENSP00000295497.7:p.Ile332=
ENST00000409900.9:c.1369A= MANE Select ENSP00000386741.4:p.Ile457=
ENST00000413882.6:c.823A= ENSP00000410496.2:p.Ile275=
ENST00000443238.6:c.847A= ENSP00000409798.2:p.Ile283=
ENST00000488080.6:n.1012A=
ENST00000650731.1:c.694A= ENSP00000499146.1:p.Ile232=
ENST00000650938.1:c.755A=
ENST00000651246.1:c.961A= ENSP00000498484.1:p.Ile321=
ENST00000651501.1:c.*816A= ENSP00000498894.1:n.*816A=
ENST00000651717.1:c.*645A= ENSP00000499124.1:n.*645A=
ENST00000652036.1:c.1045A= ENSP00000499139.1:p.Ile349=
ENST00000295497.11:c.994A= ENSP00000295497.7:p.Ile332=
ENST00000409156.7:c.1291A= ENSP00000386470.3:p.Ile431=
ENST00000409597.5:c.817A= ENSP00000386469.1:p.Ile273=
ENST00000409900.7:c.1369A= ENSP00000386741.3:p.Ile457=
ENST00000488080.5:n.1220A=
ENST00000492964.1:n.512A=
NM_001025201.3:c.1291A= NP_001020372.2:p.Ile431=
NM_001206602.1:c.994A= NP_001193531.1:p.Ile332=
NM_001822.5:c.1369A= NP_001813.1:p.Ile457=
NR_038133.1:n.1235A=
NM_001025201.4:c.1291A= NP_001020372.2:p.Ile431=
NM_001206602.2:c.994A= NP_001193531.1:p.Ile332=
NM_001371513.1:c.1369A= NP_001358442.1:p.Ile457=
NM_001371514.1:c.1420A= NP_001358443.1:p.Ile474=
NM_001822.7:c.1369A= MANE Select NP_001813.1:p.Ile457=
NR_038133.2:n.1237A=