Canonical Allele Identifier: CA1308854939

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800280G= , CM000664.2:g.174800280G=	GRCh38
NC_000002.11:g.175665008G= , CM000664.1:g.175665008G=	GRCh37
NC_000002.10:g.175373254G=	NCBI36
NG_012642.1:g.210163C=
NG_012642.2:g.210163C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.841C=	ENSP00000295497.7:p.Leu281=
ENST00000295497.12:c.841C=	ENSP00000295497.7:p.Leu281=
ENST00000409089.7:c.592C=	ENSP00000386322.3:p.Leu198=
ENST00000409900.9:c.1216C= MANE Select	ENSP00000386741.4:p.Leu406=
ENST00000413882.6:c.670C=	ENSP00000410496.2:p.Leu224=
ENST00000443238.6:c.694C=	ENSP00000409798.2:p.Leu232=
ENST00000488080.6:n.859C=
ENST00000650731.1:c.541C=	ENSP00000499146.1:p.Leu181=
ENST00000650938.1:c.602C=
ENST00000651246.1:c.808C=	ENSP00000498484.1:p.Leu270=
ENST00000651501.1:c.*663C=	ENSP00000498894.1:n.*663C=
ENST00000651717.1:c.*492C=	ENSP00000499124.1:n.*492C=
ENST00000652036.1:c.892C=	ENSP00000499139.1:p.Leu298=
ENST00000295497.11:c.841C=	ENSP00000295497.7:p.Leu281=
ENST00000409156.7:c.1138C=	ENSP00000386470.3:p.Leu380=
ENST00000409597.5:c.664C=	ENSP00000386469.1:p.Leu222=
ENST00000409900.7:c.1216C=	ENSP00000386741.3:p.Leu406=
ENST00000488080.5:n.1067C=
ENST00000492964.1:n.359C=
NM_001025201.3:c.1138C=	NP_001020372.2:p.Leu380=
NM_001206602.1:c.841C=	NP_001193531.1:p.Leu281=
NM_001822.5:c.1216C=	NP_001813.1:p.Leu406=
NR_038133.1:n.1082C=
NM_001025201.4:c.1138C=	NP_001020372.2:p.Leu380=
NM_001206602.2:c.841C=	NP_001193531.1:p.Leu281=
NM_001371513.1:c.1216C=	NP_001358442.1:p.Leu406=
NM_001371514.1:c.1267C=	NP_001358443.1:p.Leu423=
NM_001822.7:c.1216C= MANE Select	NP_001813.1:p.Leu406=
NR_038133.2:n.1084C=