Canonical Allele Identifier: CA1308854902
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174800187C= , CM000664.2:g.174800187C= GRCh38
NC_000002.11:g.175664915C= , CM000664.1:g.175664915C= GRCh37
NC_000002.10:g.175373161C= NCBI36
NG_012642.1:g.210256G=
NG_012642.2:g.210256G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.934G= ENSP00000295497.7:p.Ala312=
ENST00000295497.12:c.934G= ENSP00000295497.7:p.Ala312=
ENST00000409900.9:c.1309G= MANE Select ENSP00000386741.4:p.Ala437=
ENST00000413882.6:c.763G= ENSP00000410496.2:p.Ala255=
ENST00000443238.6:c.787G= ENSP00000409798.2:p.Ala263=
ENST00000488080.6:n.952G=
ENST00000650731.1:c.634G= ENSP00000499146.1:p.Ala212=
ENST00000650938.1:c.695G=
ENST00000651246.1:c.901G= ENSP00000498484.1:p.Ala301=
ENST00000651501.1:c.*756G= ENSP00000498894.1:n.*756G=
ENST00000651717.1:c.*585G= ENSP00000499124.1:n.*585G=
ENST00000652036.1:c.985G= ENSP00000499139.1:p.Ala329=
ENST00000295497.11:c.934G= ENSP00000295497.7:p.Ala312=
ENST00000409156.7:c.1231G= ENSP00000386470.3:p.Ala411=
ENST00000409597.5:c.757G= ENSP00000386469.1:p.Ala253=
ENST00000409900.7:c.1309G= ENSP00000386741.3:p.Ala437=
ENST00000488080.5:n.1160G=
ENST00000492964.1:n.452G=
NM_001025201.3:c.1231G= NP_001020372.2:p.Ala411=
NM_001206602.1:c.934G= NP_001193531.1:p.Ala312=
NM_001822.5:c.1309G= NP_001813.1:p.Ala437=
NR_038133.1:n.1175G=
NM_001025201.4:c.1231G= NP_001020372.2:p.Ala411=
NM_001206602.2:c.934G= NP_001193531.1:p.Ala312=
NM_001371513.1:c.1309G= NP_001358442.1:p.Ala437=
NM_001371514.1:c.1360G= NP_001358443.1:p.Ala454=
NM_001822.7:c.1309G= MANE Select NP_001813.1:p.Ala437=
NR_038133.2:n.1177G=