Canonical Allele Identifier: CA1308854922

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800248C= , CM000664.2:g.174800248C=	GRCh38
NC_000002.11:g.175664976C= , CM000664.1:g.175664976C=	GRCh37
NC_000002.10:g.175373222C=	NCBI36
NG_012642.1:g.210195G=
NG_012642.2:g.210195G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.873G=	ENSP00000295497.7:p.Glu291=
ENST00000295497.12:c.873G=	ENSP00000295497.7:p.Glu291=
ENST00000409900.9:c.1248G= MANE Select	ENSP00000386741.4:p.Glu416=
ENST00000413882.6:c.702G=	ENSP00000410496.2:p.Glu234=
ENST00000443238.6:c.726G=	ENSP00000409798.2:p.Glu242=
ENST00000488080.6:n.891G=
ENST00000650731.1:c.573G=	ENSP00000499146.1:p.Glu191=
ENST00000650938.1:c.634G=
ENST00000651246.1:c.840G=	ENSP00000498484.1:p.Glu280=
ENST00000651501.1:c.*695G=	ENSP00000498894.1:n.*695G=
ENST00000651717.1:c.*524G=	ENSP00000499124.1:n.*524G=
ENST00000652036.1:c.924G=	ENSP00000499139.1:p.Glu308=
ENST00000295497.11:c.873G=	ENSP00000295497.7:p.Glu291=
ENST00000409156.7:c.1170G=	ENSP00000386470.3:p.Glu390=
ENST00000409597.5:c.696G=	ENSP00000386469.1:p.Glu232=
ENST00000409900.7:c.1248G=	ENSP00000386741.3:p.Glu416=
ENST00000488080.5:n.1099G=
ENST00000492964.1:n.391G=
NM_001025201.3:c.1170G=	NP_001020372.2:p.Glu390=
NM_001206602.1:c.873G=	NP_001193531.1:p.Glu291=
NM_001822.5:c.1248G=	NP_001813.1:p.Glu416=
NR_038133.1:n.1114G=
NM_001025201.4:c.1170G=	NP_001020372.2:p.Glu390=
NM_001206602.2:c.873G=	NP_001193531.1:p.Glu291=
NM_001371513.1:c.1248G=	NP_001358442.1:p.Glu416=
NM_001371514.1:c.1299G=	NP_001358443.1:p.Glu433=
NM_001822.7:c.1248G= MANE Select	NP_001813.1:p.Glu416=
NR_038133.2:n.1116G=