Canonical Allele Identifier: CA349347819

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689208A>C (hg19) ; chr2:g.174824480A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824480A>C , CM000664.2:g.174824480A>C	GRCh38
NC_000002.11:g.175689208A>C , CM000664.1:g.175689208A>C	GRCh37
NC_000002.10:g.175397454A>C	NCBI36
NG_012642.1:g.185963T>G
NG_012642.2:g.185963T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.291T>G	ENSP00000295497.7:p.Cys97Trp
ENST00000444394.7:c.291T>G	ENSP00000411911.2:p.Cys97Trp
ENST00000295497.12:c.291T>G	ENSP00000295497.7:p.Cys97Trp
ENST00000409089.7:c.-10T>G	ENSP00000386322.3:n.-10T>G
ENST00000409900.9:c.666T>G MANE Select	ENSP00000386741.4:p.Cys222Trp
ENST00000413882.6:c.120T>G	ENSP00000410496.2:p.Cys40Trp
ENST00000425395.6:c.*113T>G	ENSP00000405270.2:n.*113T>G
ENST00000443238.6:c.144T>G	ENSP00000409798.2:p.Cys48Trp
ENST00000444394.6:c.291T>G	ENSP00000411911.2:p.Cys97Trp
ENST00000444573.2:c.510T>G	ENSP00000392603.2:p.Cys170Trp
ENST00000488080.6:n.309T>G
ENST00000650731.1:c.-10T>G	ENSP00000499146.1:n.-10T>G
ENST00000650938.1:c.190T>G
ENST00000651246.1:c.258T>G	ENSP00000498484.1:p.Cys86Trp
ENST00000651373.1:c.180T>G	ENSP00000499174.1:p.Cys60Trp
ENST00000651501.1:c.*113T>G	ENSP00000498894.1:n.*113T>G
ENST00000651717.1:c.253-11998T>G	ENSP00000499124.1:n.253-11998T>G
ENST00000652036.1:c.291T>G	ENSP00000499139.1:p.Cys97Trp
ENST00000652154.1:n.564T>G
ENST00000295497.11:c.291T>G	ENSP00000295497.7:p.Cys97Trp
ENST00000409089.6:c.-10T>G	ENSP00000386322.2:n.-10T>G
ENST00000409156.7:c.588T>G	ENSP00000386470.3:p.Cys196Trp
ENST00000409597.5:c.114T>G	ENSP00000386469.1:p.Cys38Trp
ENST00000409900.7:c.666T>G	ENSP00000386741.3:p.Cys222Trp
ENST00000413882.5:c.120T>G	ENSP00000410496.1:p.Cys40Trp
ENST00000425395.5:c.*217T>G	ENSP00000405270.1:n.*217T>G
ENST00000443238.5:c.144T>G	ENSP00000409798.1:p.Cys48Trp
ENST00000444394.5:c.-10T>G	ENSP00000411911.1:n.-10T>G
ENST00000444573.1:c.291T>G	ENSP00000392603.1:p.Cys97Trp
ENST00000485882.1:n.125T>G
ENST00000488080.5:n.517T>G
NM_001025201.3:c.588T>G	NP_001020372.2:p.Cys196Trp
NM_001206602.1:c.291T>G	NP_001193531.1:p.Cys97Trp
NM_001822.5:c.666T>G	NP_001813.1:p.Cys222Trp
NR_038133.1:n.532T>G
NM_001025201.4:c.588T>G	NP_001020372.2:p.Cys196Trp
NM_001206602.2:c.291T>G	NP_001193531.1:p.Cys97Trp
NM_001371513.1:c.666T>G	NP_001358442.1:p.Cys222Trp
NM_001371514.1:c.717T>G	NP_001358443.1:p.Cys239Trp
NM_001822.7:c.666T>G MANE Select	NP_001813.1:p.Cys222Trp
NR_038133.2:n.534T>G