Canonical Allele Identifier: CA349347727
Gene: CHN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174824457A>G , CM000664.2:g.174824457A>G GRCh38
NC_000002.11:g.175689185A>G , CM000664.1:g.175689185A>G GRCh37
NC_000002.10:g.175397431A>G NCBI36
NG_012642.1:g.185986T>C
NG_012642.2:g.185986T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.314T>C ENSP00000295497.7:p.Ile105Thr
ENST00000444394.7:c.314T>C ENSP00000411911.2:p.Ile105Thr
ENST00000295497.12:c.314T>C ENSP00000295497.7:p.Ile105Thr
ENST00000409089.7:c.14T>C ENSP00000386322.3:p.Ile5Thr
ENST00000409900.9:c.689T>C MANE Select ENSP00000386741.4:p.Ile230Thr
ENST00000413882.6:c.143T>C ENSP00000410496.2:p.Ile48Thr
ENST00000425395.6:c.*136T>C ENSP00000405270.2:n.*136T>C
ENST00000443238.6:c.167T>C ENSP00000409798.2:p.Ile56Thr
ENST00000444394.6:c.314T>C ENSP00000411911.2:p.Ile105Thr
ENST00000444573.2:c.533T>C ENSP00000392603.2:p.Ile178Thr
ENST00000488080.6:n.332T>C
ENST00000650731.1:c.14T>C ENSP00000499146.1:p.Ile5Thr
ENST00000650938.1:c.213T>C
ENST00000651246.1:c.281T>C ENSP00000498484.1:p.Ile94Thr
ENST00000651373.1:c.203T>C ENSP00000499174.1:p.Ile68Thr
ENST00000651501.1:c.*136T>C ENSP00000498894.1:n.*136T>C
ENST00000651717.1:c.253-11975T>C ENSP00000499124.1:n.253-11975T>C
ENST00000652036.1:c.314T>C ENSP00000499139.1:p.Ile105Thr
ENST00000652154.1:n.587T>C
ENST00000295497.11:c.314T>C ENSP00000295497.7:p.Ile105Thr
ENST00000409089.6:c.14T>C ENSP00000386322.2:p.Ile5Thr
ENST00000409156.7:c.611T>C ENSP00000386470.3:p.Ile204Thr
ENST00000409597.5:c.137T>C ENSP00000386469.1:p.Ile46Thr
ENST00000409900.7:c.689T>C ENSP00000386741.3:p.Ile230Thr
ENST00000413882.5:c.143T>C ENSP00000410496.1:p.Ile48Thr
ENST00000425395.5:c.*240T>C ENSP00000405270.1:n.*240T>C
ENST00000443238.5:c.167T>C ENSP00000409798.1:p.Ile56Thr
ENST00000444394.5:c.14T>C ENSP00000411911.1:p.Ile5Thr
ENST00000444573.1:c.314T>C ENSP00000392603.1:p.Ile105Thr
ENST00000485882.1:n.148T>C
ENST00000488080.5:n.540T>C
NM_001025201.3:c.611T>C NP_001020372.2:p.Ile204Thr
NM_001206602.1:c.314T>C NP_001193531.1:p.Ile105Thr
NM_001822.5:c.689T>C NP_001813.1:p.Ile230Thr
NR_038133.1:n.555T>C
NM_001025201.4:c.611T>C NP_001020372.2:p.Ile204Thr
NM_001206602.2:c.314T>C NP_001193531.1:p.Ile105Thr
NM_001371513.1:c.689T>C NP_001358442.1:p.Ile230Thr
NM_001371514.1:c.740T>C NP_001358443.1:p.Ile247Thr
NM_001822.7:c.689T>C MANE Select NP_001813.1:p.Ile230Thr
NR_038133.2:n.557T>C