Canonical Allele Identifier: CA1308854940

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800281G= , CM000664.2:g.174800281G=	GRCh38
NC_000002.11:g.175665009G= , CM000664.1:g.175665009G=	GRCh37
NC_000002.10:g.175373255G=	NCBI36
NG_012642.1:g.210162C=
NG_012642.2:g.210162C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.840C=	ENSP00000295497.7:p.Thr280=
ENST00000295497.12:c.840C=	ENSP00000295497.7:p.Thr280=
ENST00000409089.7:c.591C=	ENSP00000386322.3:p.Thr197=
ENST00000409900.9:c.1215C= MANE Select	ENSP00000386741.4:p.Thr405=
ENST00000413882.6:c.669C=	ENSP00000410496.2:p.Thr223=
ENST00000443238.6:c.693C=	ENSP00000409798.2:p.Thr231=
ENST00000488080.6:n.858C=
ENST00000650731.1:c.540C=	ENSP00000499146.1:p.Thr180=
ENST00000650938.1:c.601C=
ENST00000651246.1:c.807C=	ENSP00000498484.1:p.Thr269=
ENST00000651501.1:c.*662C=	ENSP00000498894.1:n.*662C=
ENST00000651717.1:c.*491C=	ENSP00000499124.1:n.*491C=
ENST00000652036.1:c.891C=	ENSP00000499139.1:p.Thr297=
ENST00000295497.11:c.840C=	ENSP00000295497.7:p.Thr280=
ENST00000409156.7:c.1137C=	ENSP00000386470.3:p.Thr379=
ENST00000409597.5:c.663C=	ENSP00000386469.1:p.Thr221=
ENST00000409900.7:c.1215C=	ENSP00000386741.3:p.Thr405=
ENST00000488080.5:n.1066C=
ENST00000492964.1:n.358C=
NM_001025201.3:c.1137C=	NP_001020372.2:p.Thr379=
NM_001206602.1:c.840C=	NP_001193531.1:p.Thr280=
NM_001822.5:c.1215C=	NP_001813.1:p.Thr405=
NR_038133.1:n.1081C=
NM_001025201.4:c.1137C=	NP_001020372.2:p.Thr379=
NM_001206602.2:c.840C=	NP_001193531.1:p.Thr280=
NM_001371513.1:c.1215C=	NP_001358442.1:p.Thr405=
NM_001371514.1:c.1266C=	NP_001358443.1:p.Thr422=
NM_001822.7:c.1215C= MANE Select	NP_001813.1:p.Thr405=
NR_038133.2:n.1083C=