Canonical Allele Identifier: CA349342395

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664959A>C (hg19) ; chr2:g.174800231A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800231A>C , CM000664.2:g.174800231A>C	GRCh38
NC_000002.11:g.175664959A>C , CM000664.1:g.175664959A>C	GRCh37
NC_000002.10:g.175373205A>C	NCBI36
NG_012642.1:g.210212T>G
NG_012642.2:g.210212T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.890T>G	ENSP00000295497.7:p.Phe297Cys
ENST00000295497.12:c.890T>G	ENSP00000295497.7:p.Phe297Cys
ENST00000409900.9:c.1265T>G MANE Select	ENSP00000386741.4:p.Phe422Cys
ENST00000413882.6:c.719T>G	ENSP00000410496.2:p.Phe240Cys
ENST00000443238.6:c.743T>G	ENSP00000409798.2:p.Phe248Cys
ENST00000488080.6:n.908T>G
ENST00000650731.1:c.590T>G	ENSP00000499146.1:p.Phe197Cys
ENST00000650938.1:c.651T>G
ENST00000651246.1:c.857T>G	ENSP00000498484.1:p.Phe286Cys
ENST00000651501.1:c.*712T>G	ENSP00000498894.1:n.*712T>G
ENST00000651717.1:c.*541T>G	ENSP00000499124.1:n.*541T>G
ENST00000652036.1:c.941T>G	ENSP00000499139.1:p.Phe314Cys
ENST00000295497.11:c.890T>G	ENSP00000295497.7:p.Phe297Cys
ENST00000409156.7:c.1187T>G	ENSP00000386470.3:p.Phe396Cys
ENST00000409597.5:c.713T>G	ENSP00000386469.1:p.Phe238Cys
ENST00000409900.7:c.1265T>G	ENSP00000386741.3:p.Phe422Cys
ENST00000488080.5:n.1116T>G
ENST00000492964.1:n.408T>G
NM_001025201.3:c.1187T>G	NP_001020372.2:p.Phe396Cys
NM_001206602.1:c.890T>G	NP_001193531.1:p.Phe297Cys
NM_001822.5:c.1265T>G	NP_001813.1:p.Phe422Cys
NR_038133.1:n.1131T>G
NM_001025201.4:c.1187T>G	NP_001020372.2:p.Phe396Cys
NM_001206602.2:c.890T>G	NP_001193531.1:p.Phe297Cys
NM_001371513.1:c.1265T>G	NP_001358442.1:p.Phe422Cys
NM_001371514.1:c.1316T>G	NP_001358443.1:p.Phe439Cys
NM_001822.7:c.1265T>G MANE Select	NP_001813.1:p.Phe422Cys
NR_038133.2:n.1133T>G