Canonical Allele Identifier: CA349347786

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689200A>C (hg19) ; chr2:g.174824472A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824472A>C , CM000664.2:g.174824472A>C	GRCh38
NC_000002.11:g.175689200A>C , CM000664.1:g.175689200A>C	GRCh37
NC_000002.10:g.175397446A>C	NCBI36
NG_012642.1:g.185971T>G
NG_012642.2:g.185971T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.299T>G	ENSP00000295497.7:p.Phe100Cys
ENST00000444394.7:c.299T>G	ENSP00000411911.2:p.Phe100Cys
ENST00000295497.12:c.299T>G	ENSP00000295497.7:p.Phe100Cys
ENST00000409089.7:c.-2T>G	ENSP00000386322.3:n.-2T>G
ENST00000409900.9:c.674T>G MANE Select	ENSP00000386741.4:p.Phe225Cys
ENST00000413882.6:c.128T>G	ENSP00000410496.2:p.Phe43Cys
ENST00000425395.6:c.*121T>G	ENSP00000405270.2:n.*121T>G
ENST00000443238.6:c.152T>G	ENSP00000409798.2:p.Phe51Cys
ENST00000444394.6:c.299T>G	ENSP00000411911.2:p.Phe100Cys
ENST00000444573.2:c.518T>G	ENSP00000392603.2:p.Phe173Cys
ENST00000488080.6:n.317T>G
ENST00000650731.1:c.-2T>G	ENSP00000499146.1:n.-2T>G
ENST00000650938.1:c.198T>G
ENST00000651246.1:c.266T>G	ENSP00000498484.1:p.Phe89Cys
ENST00000651373.1:c.188T>G	ENSP00000499174.1:p.Phe63Cys
ENST00000651501.1:c.*121T>G	ENSP00000498894.1:n.*121T>G
ENST00000651717.1:c.253-11990T>G	ENSP00000499124.1:n.253-11990T>G
ENST00000652036.1:c.299T>G	ENSP00000499139.1:p.Phe100Cys
ENST00000652154.1:n.572T>G
ENST00000295497.11:c.299T>G	ENSP00000295497.7:p.Phe100Cys
ENST00000409089.6:c.-2T>G	ENSP00000386322.2:n.-2T>G
ENST00000409156.7:c.596T>G	ENSP00000386470.3:p.Phe199Cys
ENST00000409597.5:c.122T>G	ENSP00000386469.1:p.Phe41Cys
ENST00000409900.7:c.674T>G	ENSP00000386741.3:p.Phe225Cys
ENST00000413882.5:c.128T>G	ENSP00000410496.1:p.Phe43Cys
ENST00000425395.5:c.*225T>G	ENSP00000405270.1:n.*225T>G
ENST00000443238.5:c.152T>G	ENSP00000409798.1:p.Phe51Cys
ENST00000444394.5:c.-2T>G	ENSP00000411911.1:n.-2T>G
ENST00000444573.1:c.299T>G	ENSP00000392603.1:p.Phe100Cys
ENST00000485882.1:n.133T>G
ENST00000488080.5:n.525T>G
NM_001025201.3:c.596T>G	NP_001020372.2:p.Phe199Cys
NM_001206602.1:c.299T>G	NP_001193531.1:p.Phe100Cys
NM_001822.5:c.674T>G	NP_001813.1:p.Phe225Cys
NR_038133.1:n.540T>G
NM_001025201.4:c.596T>G	NP_001020372.2:p.Phe199Cys
NM_001206602.2:c.299T>G	NP_001193531.1:p.Phe100Cys
NM_001371513.1:c.674T>G	NP_001358442.1:p.Phe225Cys
NM_001371514.1:c.725T>G	NP_001358443.1:p.Phe242Cys
NM_001822.7:c.674T>G MANE Select	NP_001813.1:p.Phe225Cys
NR_038133.2:n.542T>G