Canonical Allele Identifier: CA349347687

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689171T>C (hg19) ; chr2:g.174824443T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824443T>C , CM000664.2:g.174824443T>C	GRCh38
NC_000002.11:g.175689171T>C , CM000664.1:g.175689171T>C	GRCh37
NC_000002.10:g.175397417T>C	NCBI36
NG_012642.1:g.186000A>G
NG_012642.2:g.186000A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.328A>G	ENSP00000295497.7:p.Lys110Glu
ENST00000444394.7:c.328A>G	ENSP00000411911.2:p.Lys110Glu
ENST00000295497.12:c.328A>G	ENSP00000295497.7:p.Lys110Glu
ENST00000409089.7:c.28A>G	ENSP00000386322.3:p.Lys10Glu
ENST00000409900.9:c.703A>G MANE Select	ENSP00000386741.4:p.Lys235Glu
ENST00000413882.6:c.157A>G	ENSP00000410496.2:p.Lys53Glu
ENST00000425395.6:c.*150A>G	ENSP00000405270.2:n.*150A>G
ENST00000443238.6:c.181A>G	ENSP00000409798.2:p.Lys61Glu
ENST00000444394.6:c.328A>G	ENSP00000411911.2:p.Lys110Glu
ENST00000444573.2:c.547A>G	ENSP00000392603.2:p.Lys183Glu
ENST00000488080.6:n.346A>G
ENST00000650731.1:c.28A>G	ENSP00000499146.1:p.Lys10Glu
ENST00000650938.1:c.227A>G
ENST00000651246.1:c.295A>G	ENSP00000498484.1:p.Lys99Glu
ENST00000651373.1:c.217A>G	ENSP00000499174.1:p.Lys73Glu
ENST00000651501.1:c.*150A>G	ENSP00000498894.1:n.*150A>G
ENST00000651717.1:c.253-11961A>G	ENSP00000499124.1:n.253-11961A>G
ENST00000652036.1:c.328A>G	ENSP00000499139.1:p.Lys110Glu
ENST00000652154.1:n.601A>G
ENST00000295497.11:c.328A>G	ENSP00000295497.7:p.Lys110Glu
ENST00000409089.6:c.28A>G	ENSP00000386322.2:p.Lys10Glu
ENST00000409156.7:c.625A>G	ENSP00000386470.3:p.Lys209Glu
ENST00000409597.5:c.151A>G	ENSP00000386469.1:p.Lys51Glu
ENST00000409900.7:c.703A>G	ENSP00000386741.3:p.Lys235Glu
ENST00000413882.5:c.157A>G	ENSP00000410496.1:p.Lys53Glu
ENST00000425395.5:c.*254A>G	ENSP00000405270.1:n.*254A>G
ENST00000443238.5:c.181A>G	ENSP00000409798.1:p.Lys61Glu
ENST00000444394.5:c.28A>G	ENSP00000411911.1:p.Lys10Glu
ENST00000444573.1:c.328A>G	ENSP00000392603.1:p.Lys110Glu
ENST00000485882.1:n.162A>G
ENST00000488080.5:n.554A>G
NM_001025201.3:c.625A>G	NP_001020372.2:p.Lys209Glu
NM_001206602.1:c.328A>G	NP_001193531.1:p.Lys110Glu
NM_001822.5:c.703A>G	NP_001813.1:p.Lys235Glu
NR_038133.1:n.569A>G
NM_001025201.4:c.625A>G	NP_001020372.2:p.Lys209Glu
NM_001206602.2:c.328A>G	NP_001193531.1:p.Lys110Glu
NM_001371513.1:c.703A>G	NP_001358442.1:p.Lys235Glu
NM_001371514.1:c.754A>G	NP_001358443.1:p.Lys252Glu
NM_001822.7:c.703A>G MANE Select	NP_001813.1:p.Lys235Glu
NR_038133.2:n.571A>G