Canonical Allele Identifier: CA349341889

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664860T>C (hg19) ; chr2:g.174800132T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800132T>C , CM000664.2:g.174800132T>C	GRCh38
NC_000002.11:g.175664860T>C , CM000664.1:g.175664860T>C	GRCh37
NC_000002.10:g.175373106T>C	NCBI36
NG_012642.1:g.210311A>G
NG_012642.2:g.210311A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.989A>G	ENSP00000295497.7:p.Glu330Gly
ENST00000295497.12:c.989A>G	ENSP00000295497.7:p.Glu330Gly
ENST00000409900.9:c.1364A>G MANE Select	ENSP00000386741.4:p.Glu455Gly
ENST00000413882.6:c.818A>G	ENSP00000410496.2:p.Glu273Gly
ENST00000443238.6:c.842A>G	ENSP00000409798.2:p.Glu281Gly
ENST00000488080.6:n.1007A>G
ENST00000650731.1:c.689A>G	ENSP00000499146.1:p.Glu230Gly
ENST00000650938.1:c.750A>G
ENST00000651246.1:c.956A>G	ENSP00000498484.1:p.Glu319Gly
ENST00000651501.1:c.*811A>G	ENSP00000498894.1:n.*811A>G
ENST00000651717.1:c.*640A>G	ENSP00000499124.1:n.*640A>G
ENST00000652036.1:c.1040A>G	ENSP00000499139.1:p.Glu347Gly
ENST00000295497.11:c.989A>G	ENSP00000295497.7:p.Glu330Gly
ENST00000409156.7:c.1286A>G	ENSP00000386470.3:p.Glu429Gly
ENST00000409597.5:c.812A>G	ENSP00000386469.1:p.Glu271Gly
ENST00000409900.7:c.1364A>G	ENSP00000386741.3:p.Glu455Gly
ENST00000488080.5:n.1215A>G
ENST00000492964.1:n.507A>G
NM_001025201.3:c.1286A>G	NP_001020372.2:p.Glu429Gly
NM_001206602.1:c.989A>G	NP_001193531.1:p.Glu330Gly
NM_001822.5:c.1364A>G	NP_001813.1:p.Glu455Gly
NR_038133.1:n.1230A>G
NM_001025201.4:c.1286A>G	NP_001020372.2:p.Glu429Gly
NM_001206602.2:c.989A>G	NP_001193531.1:p.Glu330Gly
NM_001371513.1:c.1364A>G	NP_001358442.1:p.Glu455Gly
NM_001371514.1:c.1415A>G	NP_001358443.1:p.Glu472Gly
NM_001822.7:c.1364A>G MANE Select	NP_001813.1:p.Glu455Gly
NR_038133.2:n.1232A>G