Canonical Allele Identifier: CA349347666

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689166A>C (hg19) ; chr2:g.174824438A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824438A>C , CM000664.2:g.174824438A>C	GRCh38
NC_000002.11:g.175689166A>C , CM000664.1:g.175689166A>C	GRCh37
NC_000002.10:g.175397412A>C	NCBI36
NG_012642.1:g.186005T>G
NG_012642.2:g.186005T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.333T>G	ENSP00000295497.7:p.Cys111Trp
ENST00000444394.7:c.333T>G	ENSP00000411911.2:p.Cys111Trp
ENST00000295497.12:c.333T>G	ENSP00000295497.7:p.Cys111Trp
ENST00000409089.7:c.33T>G	ENSP00000386322.3:p.Cys11Trp
ENST00000409900.9:c.708T>G MANE Select	ENSP00000386741.4:p.Cys236Trp
ENST00000413882.6:c.162T>G	ENSP00000410496.2:p.Cys54Trp
ENST00000425395.6:c.*155T>G	ENSP00000405270.2:n.*155T>G
ENST00000443238.6:c.186T>G	ENSP00000409798.2:p.Cys62Trp
ENST00000444394.6:c.333T>G	ENSP00000411911.2:p.Cys111Trp
ENST00000444573.2:c.552T>G	ENSP00000392603.2:p.Cys184Trp
ENST00000488080.6:n.351T>G
ENST00000650731.1:c.33T>G	ENSP00000499146.1:p.Cys11Trp
ENST00000650938.1:c.232T>G
ENST00000651246.1:c.300T>G	ENSP00000498484.1:p.Cys100Trp
ENST00000651373.1:c.222T>G	ENSP00000499174.1:p.Cys74Trp
ENST00000651501.1:c.*155T>G	ENSP00000498894.1:n.*155T>G
ENST00000651717.1:c.253-11956T>G	ENSP00000499124.1:n.253-11956T>G
ENST00000652036.1:c.333T>G	ENSP00000499139.1:p.Cys111Trp
ENST00000652154.1:n.606T>G
ENST00000295497.11:c.333T>G	ENSP00000295497.7:p.Cys111Trp
ENST00000409089.6:c.33T>G	ENSP00000386322.2:p.Cys11Trp
ENST00000409156.7:c.630T>G	ENSP00000386470.3:p.Cys210Trp
ENST00000409597.5:c.156T>G	ENSP00000386469.1:p.Cys52Trp
ENST00000409900.7:c.708T>G	ENSP00000386741.3:p.Cys236Trp
ENST00000413882.5:c.162T>G	ENSP00000410496.1:p.Cys54Trp
ENST00000425395.5:c.*259T>G	ENSP00000405270.1:n.*259T>G
ENST00000443238.5:c.186T>G	ENSP00000409798.1:p.Cys62Trp
ENST00000444394.5:c.33T>G	ENSP00000411911.1:p.Cys11Trp
ENST00000444573.1:c.333T>G	ENSP00000392603.1:p.Cys111Trp
ENST00000485882.1:n.167T>G
ENST00000488080.5:n.559T>G
NM_001025201.3:c.630T>G	NP_001020372.2:p.Cys210Trp
NM_001206602.1:c.333T>G	NP_001193531.1:p.Cys111Trp
NM_001822.5:c.708T>G	NP_001813.1:p.Cys236Trp
NR_038133.1:n.574T>G
NM_001025201.4:c.630T>G	NP_001020372.2:p.Cys210Trp
NM_001206602.2:c.333T>G	NP_001193531.1:p.Cys111Trp
NM_001371513.1:c.708T>G	NP_001358442.1:p.Cys236Trp
NM_001371514.1:c.759T>G	NP_001358443.1:p.Cys253Trp
NM_001822.7:c.708T>G MANE Select	NP_001813.1:p.Cys236Trp
NR_038133.2:n.576T>G