Canonical Allele Identifier: CA349347853

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689215T>G (hg19) ; chr2:g.174824487T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824487T>G , CM000664.2:g.174824487T>G	GRCh38
NC_000002.11:g.175689215T>G , CM000664.1:g.175689215T>G	GRCh37
NC_000002.10:g.175397461T>G	NCBI36
NG_012642.1:g.185956A>C
NG_012642.2:g.185956A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.284A>C	ENSP00000295497.7:p.Glu95Ala
ENST00000444394.7:c.284A>C	ENSP00000411911.2:p.Glu95Ala
ENST00000295497.12:c.284A>C	ENSP00000295497.7:p.Glu95Ala
ENST00000409089.7:c.-17A>C	ENSP00000386322.3:n.-17A>C
ENST00000409900.9:c.659A>C MANE Select	ENSP00000386741.4:p.Glu220Ala
ENST00000413882.6:c.113A>C	ENSP00000410496.2:p.Glu38Ala
ENST00000425395.6:c.*106A>C	ENSP00000405270.2:n.*106A>C
ENST00000443238.6:c.137A>C	ENSP00000409798.2:p.Glu46Ala
ENST00000444394.6:c.284A>C	ENSP00000411911.2:p.Glu95Ala
ENST00000444573.2:c.503A>C	ENSP00000392603.2:p.Glu168Ala
ENST00000488080.6:n.302A>C
ENST00000650731.1:c.-17A>C	ENSP00000499146.1:n.-17A>C
ENST00000650938.1:c.183A>C
ENST00000651246.1:c.251A>C	ENSP00000498484.1:p.Glu84Ala
ENST00000651373.1:c.173A>C	ENSP00000499174.1:p.Glu58Ala
ENST00000651501.1:c.*106A>C	ENSP00000498894.1:n.*106A>C
ENST00000651717.1:c.253-12005A>C	ENSP00000499124.1:n.253-12005A>C
ENST00000652036.1:c.284A>C	ENSP00000499139.1:p.Glu95Ala
ENST00000652154.1:n.557A>C
ENST00000295497.11:c.284A>C	ENSP00000295497.7:p.Glu95Ala
ENST00000409089.6:c.-17A>C	ENSP00000386322.2:n.-17A>C
ENST00000409156.7:c.581A>C	ENSP00000386470.3:p.Glu194Ala
ENST00000409597.5:c.107A>C	ENSP00000386469.1:p.Glu36Ala
ENST00000409900.7:c.659A>C	ENSP00000386741.3:p.Glu220Ala
ENST00000413882.5:c.113A>C	ENSP00000410496.1:p.Glu38Ala
ENST00000425395.5:c.*210A>C	ENSP00000405270.1:n.*210A>C
ENST00000443238.5:c.137A>C	ENSP00000409798.1:p.Glu46Ala
ENST00000444394.5:c.-17A>C	ENSP00000411911.1:n.-17A>C
ENST00000444573.1:c.284A>C	ENSP00000392603.1:p.Glu95Ala
ENST00000485882.1:n.118A>C
ENST00000488080.5:n.510A>C
NM_001025201.3:c.581A>C	NP_001020372.2:p.Glu194Ala
NM_001206602.1:c.284A>C	NP_001193531.1:p.Glu95Ala
NM_001822.5:c.659A>C	NP_001813.1:p.Glu220Ala
NR_038133.1:n.525A>C
NM_001025201.4:c.581A>C	NP_001020372.2:p.Glu194Ala
NM_001206602.2:c.284A>C	NP_001193531.1:p.Glu95Ala
NM_001371513.1:c.659A>C	NP_001358442.1:p.Glu220Ala
NM_001371514.1:c.710A>C	NP_001358443.1:p.Glu237Ala
NM_001822.7:c.659A>C MANE Select	NP_001813.1:p.Glu220Ala
NR_038133.2:n.527A>C