Canonical Allele Identifier: CA349341833

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664848A>C (hg19) ; chr2:g.174800120A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800120A>C , CM000664.2:g.174800120A>C	GRCh38
NC_000002.11:g.175664848A>C , CM000664.1:g.175664848A>C	GRCh37
NC_000002.10:g.175373094A>C	NCBI36
NG_012642.1:g.210323T>G
NG_012642.2:g.210323T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.1001T>G	ENSP00000295497.7:p.Phe334Cys
ENST00000295497.12:c.1001T>G	ENSP00000295497.7:p.Phe334Cys
ENST00000409900.9:c.1376T>G MANE Select	ENSP00000386741.4:p.Phe459Cys
ENST00000413882.6:c.830T>G	ENSP00000410496.2:p.Phe277Cys
ENST00000443238.6:c.854T>G	ENSP00000409798.2:p.Phe285Cys
ENST00000488080.6:n.1019T>G
ENST00000650731.1:c.701T>G	ENSP00000499146.1:p.Phe234Cys
ENST00000650938.1:c.762T>G
ENST00000651246.1:c.968T>G	ENSP00000498484.1:p.Phe323Cys
ENST00000651501.1:c.*823T>G	ENSP00000498894.1:n.*823T>G
ENST00000651717.1:c.*652T>G	ENSP00000499124.1:n.*652T>G
ENST00000652036.1:c.1052T>G	ENSP00000499139.1:p.Phe351Cys
ENST00000295497.11:c.1001T>G	ENSP00000295497.7:p.Phe334Cys
ENST00000409156.7:c.1298T>G	ENSP00000386470.3:p.Phe433Cys
ENST00000409597.5:c.824T>G	ENSP00000386469.1:p.Phe275Cys
ENST00000409900.7:c.1376T>G	ENSP00000386741.3:p.Phe459Cys
ENST00000488080.5:n.1227T>G
ENST00000492964.1:n.519T>G
NM_001025201.3:c.1298T>G	NP_001020372.2:p.Phe433Cys
NM_001206602.1:c.1001T>G	NP_001193531.1:p.Phe334Cys
NM_001822.5:c.1376T>G	NP_001813.1:p.Phe459Cys
NR_038133.1:n.1242T>G
NM_001025201.4:c.1298T>G	NP_001020372.2:p.Phe433Cys
NM_001206602.2:c.1001T>G	NP_001193531.1:p.Phe334Cys
NM_001371513.1:c.1376T>G	NP_001358442.1:p.Phe459Cys
NM_001371514.1:c.1427T>G	NP_001358443.1:p.Phe476Cys
NM_001822.7:c.1376T>G MANE Select	NP_001813.1:p.Phe459Cys
NR_038133.2:n.1244T>G