Canonical Allele Identifier: CA349341826

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664846A>C (hg19) ; chr2:g.174800118A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800118A>C , CM000664.2:g.174800118A>C	GRCh38
NC_000002.11:g.175664846A>C , CM000664.1:g.175664846A>C	GRCh37
NC_000002.10:g.175373092A>C	NCBI36
NG_012642.1:g.210325T>G
NG_012642.2:g.210325T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.1003T>G	ENSP00000295497.7:p.Ter335Glu
ENST00000295497.12:c.1003T>G	ENSP00000295497.7:p.Ter335Glu
ENST00000409900.9:c.1378T>G MANE Select	ENSP00000386741.4:p.Ter460Glu
ENST00000413882.6:c.832T>G	ENSP00000410496.2:p.Ter278Glu
ENST00000443238.6:c.856T>G	ENSP00000409798.2:p.Ter286Glu
ENST00000488080.6:n.1021T>G
ENST00000650731.1:c.703T>G	ENSP00000499146.1:p.Ter235Glu
ENST00000650938.1:c.764T>G
ENST00000651246.1:c.970T>G	ENSP00000498484.1:p.Ter324Glu
ENST00000651501.1:c.*825T>G	ENSP00000498894.1:n.*825T>G
ENST00000651717.1:c.*654T>G	ENSP00000499124.1:n.*654T>G
ENST00000652036.1:c.1054T>G	ENSP00000499139.1:p.Ter352Glu
ENST00000295497.11:c.1003T>G	ENSP00000295497.7:p.Ter335Glu
ENST00000409156.7:c.1300T>G	ENSP00000386470.3:p.Ter434Glu
ENST00000409597.5:c.826T>G	ENSP00000386469.1:p.Ter276Glu
ENST00000409900.7:c.1378T>G	ENSP00000386741.3:p.Ter460Glu
ENST00000488080.5:n.1229T>G
ENST00000492964.1:n.521T>G
NM_001025201.3:c.1300T>G	NP_001020372.2:p.Ter434Glu
NM_001206602.1:c.1003T>G	NP_001193531.1:p.Ter335Glu
NM_001822.5:c.1378T>G	NP_001813.1:p.Ter460Glu
NR_038133.1:n.1244T>G
NM_001025201.4:c.1300T>G	NP_001020372.2:p.Ter434Glu
NM_001206602.2:c.1003T>G	NP_001193531.1:p.Ter335Glu
NM_001371513.1:c.1378T>G	NP_001358442.1:p.Ter460Glu
NM_001371514.1:c.1429T>G	NP_001358443.1:p.Ter477Glu
NM_001822.7:c.1378T>G MANE Select	NP_001813.1:p.Ter460Glu
NR_038133.2:n.1246T>G