Canonical Allele Identifier: CA1308854894

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800171C= , CM000664.2:g.174800171C=	GRCh38
NC_000002.11:g.175664899C= , CM000664.1:g.175664899C=	GRCh37
NC_000002.10:g.175373145C=	NCBI36
NG_012642.1:g.210272G=
NG_012642.2:g.210272G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.950G=	ENSP00000295497.7:p.Arg317=
ENST00000295497.12:c.950G=	ENSP00000295497.7:p.Arg317=
ENST00000409900.9:c.1325G= MANE Select	ENSP00000386741.4:p.Arg442=
ENST00000413882.6:c.779G=	ENSP00000410496.2:p.Arg260=
ENST00000443238.6:c.803G=	ENSP00000409798.2:p.Arg268=
ENST00000488080.6:n.968G=
ENST00000650731.1:c.650G=	ENSP00000499146.1:p.Arg217=
ENST00000650938.1:c.711G=
ENST00000651246.1:c.917G=	ENSP00000498484.1:p.Arg306=
ENST00000651501.1:c.*772G=	ENSP00000498894.1:n.*772G=
ENST00000651717.1:c.*601G=	ENSP00000499124.1:n.*601G=
ENST00000652036.1:c.1001G=	ENSP00000499139.1:p.Arg334=
ENST00000295497.11:c.950G=	ENSP00000295497.7:p.Arg317=
ENST00000409156.7:c.1247G=	ENSP00000386470.3:p.Arg416=
ENST00000409597.5:c.773G=	ENSP00000386469.1:p.Arg258=
ENST00000409900.7:c.1325G=	ENSP00000386741.3:p.Arg442=
ENST00000488080.5:n.1176G=
ENST00000492964.1:n.468G=
NM_001025201.3:c.1247G=	NP_001020372.2:p.Arg416=
NM_001206602.1:c.950G=	NP_001193531.1:p.Arg317=
NM_001822.5:c.1325G=	NP_001813.1:p.Arg442=
NR_038133.1:n.1191G=
NM_001025201.4:c.1247G=	NP_001020372.2:p.Arg416=
NM_001206602.2:c.950G=	NP_001193531.1:p.Arg317=
NM_001371513.1:c.1325G=	NP_001358442.1:p.Arg442=
NM_001371514.1:c.1376G=	NP_001358443.1:p.Arg459=
NM_001822.7:c.1325G= MANE Select	NP_001813.1:p.Arg442=
NR_038133.2:n.1193G=