Canonical Allele Identifier: CA430016486

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664850T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800122T>C , CM000664.2:g.174800122T>C	GRCh38
NC_000002.11:g.175664850T>C , CM000664.1:g.175664850T>C	GRCh37
NC_000002.10:g.175373096T>C	NCBI36
NG_012642.1:g.210321A>G
NG_012642.2:g.210321A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.999A>G	ENSP00000295497.7:p.Leu333=
ENST00000295497.12:c.999A>G	ENSP00000295497.7:p.Leu333=
ENST00000409900.9:c.1374A>G MANE Select	ENSP00000386741.4:p.Leu458=
ENST00000413882.6:c.828A>G	ENSP00000410496.2:p.Leu276=
ENST00000443238.6:c.852A>G	ENSP00000409798.2:p.Leu284=
ENST00000488080.6:n.1017A>G
ENST00000650731.1:c.699A>G	ENSP00000499146.1:p.Leu233=
ENST00000650938.1:c.760A>G
ENST00000651246.1:c.966A>G	ENSP00000498484.1:p.Leu322=
ENST00000651501.1:c.*821A>G	ENSP00000498894.1:n.*821A>G
ENST00000651717.1:c.*650A>G	ENSP00000499124.1:n.*650A>G
ENST00000652036.1:c.1050A>G	ENSP00000499139.1:p.Leu350=
ENST00000295497.11:c.999A>G	ENSP00000295497.7:p.Leu333=
ENST00000409156.7:c.1296A>G	ENSP00000386470.3:p.Leu432=
ENST00000409597.5:c.822A>G	ENSP00000386469.1:p.Leu274=
ENST00000409900.7:c.1374A>G	ENSP00000386741.3:p.Leu458=
ENST00000488080.5:n.1225A>G
ENST00000492964.1:n.517A>G
NM_001025201.3:c.1296A>G	NP_001020372.2:p.Leu432=
NM_001206602.1:c.999A>G	NP_001193531.1:p.Leu333=
NM_001822.5:c.1374A>G	NP_001813.1:p.Leu458=
NR_038133.1:n.1240A>G
NM_001025201.4:c.1296A>G	NP_001020372.2:p.Leu432=
NM_001206602.2:c.999A>G	NP_001193531.1:p.Leu333=
NM_001371513.1:c.1374A>G	NP_001358442.1:p.Leu458=
NM_001371514.1:c.1425A>G	NP_001358443.1:p.Leu475=
NM_001822.7:c.1374A>G MANE Select	NP_001813.1:p.Leu458=
NR_038133.2:n.1242A>G