Canonical Allele Identifier: CA430022724

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689178C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824450C>T , CM000664.2:g.174824450C>T	GRCh38
NC_000002.11:g.175689178C>T , CM000664.1:g.175689178C>T	GRCh37
NC_000002.10:g.175397424C>T	NCBI36
NG_012642.1:g.185993G>A
NG_012642.2:g.185993G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.321G>A	ENSP00000295497.7:p.Gln107=
ENST00000444394.7:c.321G>A	ENSP00000411911.2:p.Gln107=
ENST00000295497.12:c.321G>A	ENSP00000295497.7:p.Gln107=
ENST00000409089.7:c.21G>A	ENSP00000386322.3:p.Gln7=
ENST00000409900.9:c.696G>A MANE Select	ENSP00000386741.4:p.Gln232=
ENST00000413882.6:c.150G>A	ENSP00000410496.2:p.Gln50=
ENST00000425395.6:c.*143G>A	ENSP00000405270.2:n.*143G>A
ENST00000443238.6:c.174G>A	ENSP00000409798.2:p.Gln58=
ENST00000444394.6:c.321G>A	ENSP00000411911.2:p.Gln107=
ENST00000444573.2:c.540G>A	ENSP00000392603.2:p.Gln180=
ENST00000488080.6:n.339G>A
ENST00000650731.1:c.21G>A	ENSP00000499146.1:p.Gln7=
ENST00000650938.1:c.220G>A
ENST00000651246.1:c.288G>A	ENSP00000498484.1:p.Gln96=
ENST00000651373.1:c.210G>A	ENSP00000499174.1:p.Gln70=
ENST00000651501.1:c.*143G>A	ENSP00000498894.1:n.*143G>A
ENST00000651717.1:c.253-11968G>A	ENSP00000499124.1:n.253-11968G>A
ENST00000652036.1:c.321G>A	ENSP00000499139.1:p.Gln107=
ENST00000652154.1:n.594G>A
ENST00000295497.11:c.321G>A	ENSP00000295497.7:p.Gln107=
ENST00000409089.6:c.21G>A	ENSP00000386322.2:p.Gln7=
ENST00000409156.7:c.618G>A	ENSP00000386470.3:p.Gln206=
ENST00000409597.5:c.144G>A	ENSP00000386469.1:p.Gln48=
ENST00000409900.7:c.696G>A	ENSP00000386741.3:p.Gln232=
ENST00000413882.5:c.150G>A	ENSP00000410496.1:p.Gln50=
ENST00000425395.5:c.*247G>A	ENSP00000405270.1:n.*247G>A
ENST00000443238.5:c.174G>A	ENSP00000409798.1:p.Gln58=
ENST00000444394.5:c.21G>A	ENSP00000411911.1:p.Gln7=
ENST00000444573.1:c.321G>A	ENSP00000392603.1:p.Gln107=
ENST00000485882.1:n.155G>A
ENST00000488080.5:n.547G>A
NM_001025201.3:c.618G>A	NP_001020372.2:p.Gln206=
NM_001206602.1:c.321G>A	NP_001193531.1:p.Gln107=
NM_001822.5:c.696G>A	NP_001813.1:p.Gln232=
NR_038133.1:n.562G>A
NM_001025201.4:c.618G>A	NP_001020372.2:p.Gln206=
NM_001206602.2:c.321G>A	NP_001193531.1:p.Gln107=
NM_001371513.1:c.696G>A	NP_001358442.1:p.Gln232=
NM_001371514.1:c.747G>A	NP_001358443.1:p.Gln249=
NM_001822.7:c.696G>A MANE Select	NP_001813.1:p.Gln232=
NR_038133.2:n.564G>A