Canonical Allele Identifier: CA1308854916

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800220G= , CM000664.2:g.174800220G=	GRCh38
NC_000002.11:g.175664948G= , CM000664.1:g.175664948G=	GRCh37
NC_000002.10:g.175373194G=	NCBI36
NG_012642.1:g.210223C=
NG_012642.2:g.210223C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.901C=	ENSP00000295497.7:p.Leu301=
ENST00000295497.12:c.901C=	ENSP00000295497.7:p.Leu301=
ENST00000409900.9:c.1276C= MANE Select	ENSP00000386741.4:p.Leu426=
ENST00000413882.6:c.730C=	ENSP00000410496.2:p.Leu244=
ENST00000443238.6:c.754C=	ENSP00000409798.2:p.Leu252=
ENST00000488080.6:n.919C=
ENST00000650731.1:c.601C=	ENSP00000499146.1:p.Leu201=
ENST00000650938.1:c.662C=
ENST00000651246.1:c.868C=	ENSP00000498484.1:p.Leu290=
ENST00000651501.1:c.*723C=	ENSP00000498894.1:n.*723C=
ENST00000651717.1:c.*552C=	ENSP00000499124.1:n.*552C=
ENST00000652036.1:c.952C=	ENSP00000499139.1:p.Leu318=
ENST00000295497.11:c.901C=	ENSP00000295497.7:p.Leu301=
ENST00000409156.7:c.1198C=	ENSP00000386470.3:p.Leu400=
ENST00000409597.5:c.724C=	ENSP00000386469.1:p.Leu242=
ENST00000409900.7:c.1276C=	ENSP00000386741.3:p.Leu426=
ENST00000488080.5:n.1127C=
ENST00000492964.1:n.419C=
NM_001025201.3:c.1198C=	NP_001020372.2:p.Leu400=
NM_001206602.1:c.901C=	NP_001193531.1:p.Leu301=
NM_001822.5:c.1276C=	NP_001813.1:p.Leu426=
NR_038133.1:n.1142C=
NM_001025201.4:c.1198C=	NP_001020372.2:p.Leu400=
NM_001206602.2:c.901C=	NP_001193531.1:p.Leu301=
NM_001371513.1:c.1276C=	NP_001358442.1:p.Leu426=
NM_001371514.1:c.1327C=	NP_001358443.1:p.Leu443=
NM_001822.7:c.1276C= MANE Select	NP_001813.1:p.Leu426=
NR_038133.2:n.1144C=