Canonical Allele Identifier: CA1308854920

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800236G= , CM000664.2:g.174800236G=	GRCh38
NC_000002.11:g.175664964G= , CM000664.1:g.175664964G=	GRCh37
NC_000002.10:g.175373210G=	NCBI36
NG_012642.1:g.210207C=
NG_012642.2:g.210207C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.885C=	ENSP00000295497.7:p.Ile295=
ENST00000295497.12:c.885C=	ENSP00000295497.7:p.Ile295=
ENST00000409900.9:c.1260C= MANE Select	ENSP00000386741.4:p.Ile420=
ENST00000413882.6:c.714C=	ENSP00000410496.2:p.Ile238=
ENST00000443238.6:c.738C=	ENSP00000409798.2:p.Ile246=
ENST00000488080.6:n.903C=
ENST00000650731.1:c.585C=	ENSP00000499146.1:p.Ile195=
ENST00000650938.1:c.646C=
ENST00000651246.1:c.852C=	ENSP00000498484.1:p.Ile284=
ENST00000651501.1:c.*707C=	ENSP00000498894.1:n.*707C=
ENST00000651717.1:c.*536C=	ENSP00000499124.1:n.*536C=
ENST00000652036.1:c.936C=	ENSP00000499139.1:p.Ile312=
ENST00000295497.11:c.885C=	ENSP00000295497.7:p.Ile295=
ENST00000409156.7:c.1182C=	ENSP00000386470.3:p.Ile394=
ENST00000409597.5:c.708C=	ENSP00000386469.1:p.Ile236=
ENST00000409900.7:c.1260C=	ENSP00000386741.3:p.Ile420=
ENST00000488080.5:n.1111C=
ENST00000492964.1:n.403C=
NM_001025201.3:c.1182C=	NP_001020372.2:p.Ile394=
NM_001206602.1:c.885C=	NP_001193531.1:p.Ile295=
NM_001822.5:c.1260C=	NP_001813.1:p.Ile420=
NR_038133.1:n.1126C=
NM_001025201.4:c.1182C=	NP_001020372.2:p.Ile394=
NM_001206602.2:c.885C=	NP_001193531.1:p.Ile295=
NM_001371513.1:c.1260C=	NP_001358442.1:p.Ile420=
NM_001371514.1:c.1311C=	NP_001358443.1:p.Ile437=
NM_001822.7:c.1260C= MANE Select	NP_001813.1:p.Ile420=
NR_038133.2:n.1128C=