Canonical Allele Identifier: CA349347875

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824491-A-G
• MyVariant Identifiers: chr2:g.175689219A>G (hg19) ; chr2:g.174824491A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824491A>G , CM000664.2:g.174824491A>G	GRCh38
NC_000002.11:g.175689219A>G , CM000664.1:g.175689219A>G	GRCh37
NC_000002.10:g.175397465A>G	NCBI36
NG_012642.1:g.185952T>C
NG_012642.2:g.185952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.280T>C	ENSP00000295497.7:p.Cys94Arg
ENST00000444394.7:c.280T>C	ENSP00000411911.2:p.Cys94Arg
ENST00000295497.12:c.280T>C	ENSP00000295497.7:p.Cys94Arg
ENST00000409089.7:c.-21T>C	ENSP00000386322.3:n.-21T>C
ENST00000409900.9:c.655T>C MANE Select	ENSP00000386741.4:p.Cys219Arg
ENST00000413882.6:c.109T>C	ENSP00000410496.2:p.Cys37Arg
ENST00000425395.6:c.*102T>C	ENSP00000405270.2:n.*102T>C
ENST00000443238.6:c.133T>C	ENSP00000409798.2:p.Cys45Arg
ENST00000444394.6:c.280T>C	ENSP00000411911.2:p.Cys94Arg
ENST00000444573.2:c.499T>C	ENSP00000392603.2:p.Cys167Arg
ENST00000488080.6:n.298T>C
ENST00000650731.1:c.-21T>C	ENSP00000499146.1:n.-21T>C
ENST00000650770.1:c.*569T>C	ENSP00000499036.1:n.*569T>C
ENST00000650938.1:c.179T>C
ENST00000651246.1:c.247T>C	ENSP00000498484.1:p.Cys83Arg
ENST00000651373.1:c.169T>C	ENSP00000499174.1:p.Cys57Arg
ENST00000651501.1:c.*102T>C	ENSP00000498894.1:n.*102T>C
ENST00000651717.1:c.253-12009T>C	ENSP00000499124.1:n.253-12009T>C
ENST00000652036.1:c.280T>C	ENSP00000499139.1:p.Cys94Arg
ENST00000652154.1:n.553T>C
ENST00000652734.1:n.552T>C
ENST00000652768.1:n.547T>C
ENST00000295497.11:c.280T>C	ENSP00000295497.7:p.Cys94Arg
ENST00000409089.6:c.-21T>C	ENSP00000386322.2:n.-21T>C
ENST00000409156.7:c.577T>C	ENSP00000386470.3:p.Cys193Arg
ENST00000409597.5:c.103T>C	ENSP00000386469.1:p.Cys35Arg
ENST00000409900.7:c.655T>C	ENSP00000386741.3:p.Cys219Arg
ENST00000413882.5:c.109T>C	ENSP00000410496.1:p.Cys37Arg
ENST00000425395.5:c.*206T>C	ENSP00000405270.1:n.*206T>C
ENST00000443238.5:c.133T>C	ENSP00000409798.1:p.Cys45Arg
ENST00000444394.5:c.-21T>C	ENSP00000411911.1:n.-21T>C
ENST00000444573.1:c.280T>C	ENSP00000392603.1:p.Cys94Arg
ENST00000485882.1:n.114T>C
ENST00000488080.5:n.506T>C
NM_001025201.3:c.577T>C	NP_001020372.2:p.Cys193Arg
NM_001206602.1:c.280T>C	NP_001193531.1:p.Cys94Arg
NM_001822.5:c.655T>C	NP_001813.1:p.Cys219Arg
NR_038133.1:n.521T>C
NM_001025201.4:c.577T>C	NP_001020372.2:p.Cys193Arg
NM_001206602.2:c.280T>C	NP_001193531.1:p.Cys94Arg
NM_001371513.1:c.655T>C	NP_001358442.1:p.Cys219Arg
NM_001371514.1:c.706T>C	NP_001358443.1:p.Cys236Arg
NM_001822.7:c.655T>C MANE Select	NP_001813.1:p.Cys219Arg
NR_038133.2:n.523T>C