Canonical Allele Identifier: CA1308854926

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800253C= , CM000664.2:g.174800253C=	GRCh38
NC_000002.11:g.175664981C= , CM000664.1:g.175664981C=	GRCh37
NC_000002.10:g.175373227C=	NCBI36
NG_012642.1:g.210190G=
NG_012642.2:g.210190G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.868G=	ENSP00000295497.7:p.Ala290=
ENST00000295497.12:c.868G=	ENSP00000295497.7:p.Ala290=
ENST00000409900.9:c.1243G= MANE Select	ENSP00000386741.4:p.Ala415=
ENST00000413882.6:c.697G=	ENSP00000410496.2:p.Ala233=
ENST00000443238.6:c.721G=	ENSP00000409798.2:p.Ala241=
ENST00000488080.6:n.886G=
ENST00000650731.1:c.568G=	ENSP00000499146.1:p.Ala190=
ENST00000650938.1:c.629G=
ENST00000651246.1:c.835G=	ENSP00000498484.1:p.Ala279=
ENST00000651501.1:c.*690G=	ENSP00000498894.1:n.*690G=
ENST00000651717.1:c.*519G=	ENSP00000499124.1:n.*519G=
ENST00000652036.1:c.919G=	ENSP00000499139.1:p.Ala307=
ENST00000295497.11:c.868G=	ENSP00000295497.7:p.Ala290=
ENST00000409156.7:c.1165G=	ENSP00000386470.3:p.Ala389=
ENST00000409597.5:c.691G=	ENSP00000386469.1:p.Ala231=
ENST00000409900.7:c.1243G=	ENSP00000386741.3:p.Ala415=
ENST00000488080.5:n.1094G=
ENST00000492964.1:n.386G=
NM_001025201.3:c.1165G=	NP_001020372.2:p.Ala389=
NM_001206602.1:c.868G=	NP_001193531.1:p.Ala290=
NM_001822.5:c.1243G=	NP_001813.1:p.Ala415=
NR_038133.1:n.1109G=
NM_001025201.4:c.1165G=	NP_001020372.2:p.Ala389=
NM_001206602.2:c.868G=	NP_001193531.1:p.Ala290=
NM_001371513.1:c.1243G=	NP_001358442.1:p.Ala415=
NM_001371514.1:c.1294G=	NP_001358443.1:p.Ala432=
NM_001822.7:c.1243G= MANE Select	NP_001813.1:p.Ala415=
NR_038133.2:n.1111G=