Canonical Allele Identifier: CA349342311

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664942T>A (hg19) ; chr2:g.174800214T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800214T>A , CM000664.2:g.174800214T>A	GRCh38
NC_000002.11:g.175664942T>A , CM000664.1:g.175664942T>A	GRCh37
NC_000002.10:g.175373188T>A	NCBI36
NG_012642.1:g.210229A>T
NG_012642.2:g.210229A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.907A>T	ENSP00000295497.7:p.Arg303Ter
ENST00000295497.12:c.907A>T	ENSP00000295497.7:p.Arg303Ter
ENST00000409900.9:c.1282A>T MANE Select	ENSP00000386741.4:p.Arg428Ter
ENST00000413882.6:c.736A>T	ENSP00000410496.2:p.Arg246Ter
ENST00000443238.6:c.760A>T	ENSP00000409798.2:p.Arg254Ter
ENST00000488080.6:n.925A>T
ENST00000650731.1:c.607A>T	ENSP00000499146.1:p.Arg203Ter
ENST00000650938.1:c.668A>T
ENST00000651246.1:c.874A>T	ENSP00000498484.1:p.Arg292Ter
ENST00000651501.1:c.*729A>T	ENSP00000498894.1:n.*729A>T
ENST00000651717.1:c.*558A>T	ENSP00000499124.1:n.*558A>T
ENST00000652036.1:c.958A>T	ENSP00000499139.1:p.Arg320Ter
ENST00000295497.11:c.907A>T	ENSP00000295497.7:p.Arg303Ter
ENST00000409156.7:c.1204A>T	ENSP00000386470.3:p.Arg402Ter
ENST00000409597.5:c.730A>T	ENSP00000386469.1:p.Arg244Ter
ENST00000409900.7:c.1282A>T	ENSP00000386741.3:p.Arg428Ter
ENST00000488080.5:n.1133A>T
ENST00000492964.1:n.425A>T
NM_001025201.3:c.1204A>T	NP_001020372.2:p.Arg402Ter
NM_001206602.1:c.907A>T	NP_001193531.1:p.Arg303Ter
NM_001822.5:c.1282A>T	NP_001813.1:p.Arg428Ter
NR_038133.1:n.1148A>T
NM_001025201.4:c.1204A>T	NP_001020372.2:p.Arg402Ter
NM_001206602.2:c.907A>T	NP_001193531.1:p.Arg303Ter
NM_001371513.1:c.1282A>T	NP_001358442.1:p.Arg428Ter
NM_001371514.1:c.1333A>T	NP_001358443.1:p.Arg445Ter
NM_001822.7:c.1282A>T MANE Select	NP_001813.1:p.Arg428Ter
NR_038133.2:n.1150A>T