Canonical Allele Identifier: CA349343753

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174801809A>C , CM000664.2:g.174801809A>C	GRCh38
NC_000002.11:g.175666537A>C , CM000664.1:g.175666537A>C	GRCh37
NC_000002.10:g.175374783A>C	NCBI36
NG_012642.1:g.208634T>G
NG_012642.2:g.208634T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001822.7:c.1106T>G MANE Select	NP_001813.1:p.Ile369Ser
ENST00000409900.9:c.1106T>G MANE Select	ENSP00000386741.4:p.Ile369Ser
NM_001025201.3:c.1028T>G	NP_001020372.2:p.Ile343Ser
NM_001025201.4:c.1028T>G	NP_001020372.2:p.Ile343Ser
NM_001206602.1:c.731T>G	NP_001193531.1:p.Ile244Ser
NM_001206602.2:c.731T>G	NP_001193531.1:p.Ile244Ser
NM_001371513.1:c.1106T>G	NP_001358442.1:p.Ile369Ser
NM_001371514.1:c.1157T>G	NP_001358443.1:p.Ile386Ser
NM_001822.5:c.1106T>G	NP_001813.1:p.Ile369Ser
NR_038133.1:n.972T>G
NR_038133.2:n.974T>G
ENST00000295497.11:c.731T>G	ENSP00000295497.7:p.Ile244Ser
ENST00000295497.12:c.731T>G	ENSP00000295497.7:p.Ile244Ser
ENST00000295497.13:c.731T>G	ENSP00000295497.7:p.Ile244Ser
ENST00000409089.6:c.482T>G	ENSP00000386322.2:p.Ile161Ser
ENST00000409089.7:c.482T>G	ENSP00000386322.3:p.Ile161Ser
ENST00000409156.7:c.1028T>G	ENSP00000386470.3:p.Ile343Ser
ENST00000409597.5:c.554T>G	ENSP00000386469.1:p.Ile185Ser
ENST00000409900.7:c.1106T>G	ENSP00000386741.3:p.Ile369Ser
ENST00000413882.6:c.560T>G	ENSP00000410496.2:p.Ile187Ser
ENST00000443238.6:c.584T>G	ENSP00000409798.2:p.Ile195Ser
ENST00000444394.5:c.431T>G	ENSP00000411911.1:p.Ile144Ser
ENST00000444394.6:c.860T>G	ENSP00000411911.2:p.Ile287Ser
ENST00000444394.7:c.860T>G	ENSP00000411911.2:p.Ile287Ser
ENST00000488080.5:n.957T>G
ENST00000488080.6:n.749T>G
ENST00000492964.1:n.249T>G
ENST00000650731.1:c.431T>G	ENSP00000499146.1:p.Ile144Ser
ENST00000650938.1:c.492T>G
ENST00000651246.1:c.698T>G	ENSP00000498484.1:p.Ile233Ser
ENST00000651501.1:c.*553T>G	ENSP00000498894.1:n.*553T>G
ENST00000651717.1:c.*382T>G	ENSP00000499124.1:n.*382T>G
ENST00000652036.1:c.782T>G	ENSP00000499139.1:p.Ile261Ser