Canonical Allele Identifier: CA1308854915

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800219A= , CM000664.2:g.174800219A=	GRCh38
NC_000002.11:g.175664947A= , CM000664.1:g.175664947A=	GRCh37
NC_000002.10:g.175373193A=	NCBI36
NG_012642.1:g.210224T=
NG_012642.2:g.210224T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.902T=	ENSP00000295497.7:p.Leu301=
ENST00000295497.12:c.902T=	ENSP00000295497.7:p.Leu301=
ENST00000409900.9:c.1277T= MANE Select	ENSP00000386741.4:p.Leu426=
ENST00000413882.6:c.731T=	ENSP00000410496.2:p.Leu244=
ENST00000443238.6:c.755T=	ENSP00000409798.2:p.Leu252=
ENST00000488080.6:n.920T=
ENST00000650731.1:c.602T=	ENSP00000499146.1:p.Leu201=
ENST00000650938.1:c.663T=
ENST00000651246.1:c.869T=	ENSP00000498484.1:p.Leu290=
ENST00000651501.1:c.*724T=	ENSP00000498894.1:n.*724T=
ENST00000651717.1:c.*553T=	ENSP00000499124.1:n.*553T=
ENST00000652036.1:c.953T=	ENSP00000499139.1:p.Leu318=
ENST00000295497.11:c.902T=	ENSP00000295497.7:p.Leu301=
ENST00000409156.7:c.1199T=	ENSP00000386470.3:p.Leu400=
ENST00000409597.5:c.725T=	ENSP00000386469.1:p.Leu242=
ENST00000409900.7:c.1277T=	ENSP00000386741.3:p.Leu426=
ENST00000488080.5:n.1128T=
ENST00000492964.1:n.420T=
NM_001025201.3:c.1199T=	NP_001020372.2:p.Leu400=
NM_001206602.1:c.902T=	NP_001193531.1:p.Leu301=
NM_001822.5:c.1277T=	NP_001813.1:p.Leu426=
NR_038133.1:n.1143T=
NM_001025201.4:c.1199T=	NP_001020372.2:p.Leu400=
NM_001206602.2:c.902T=	NP_001193531.1:p.Leu301=
NM_001371513.1:c.1277T=	NP_001358442.1:p.Leu426=
NM_001371514.1:c.1328T=	NP_001358443.1:p.Leu443=
NM_001822.7:c.1277T= MANE Select	NP_001813.1:p.Leu426=
NR_038133.2:n.1145T=