Canonical Allele Identifier: CA430022702

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689163T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824435T>G , CM000664.2:g.174824435T>G	GRCh38
NC_000002.11:g.175689163T>G , CM000664.1:g.175689163T>G	GRCh37
NC_000002.10:g.175397409T>G	NCBI36
NG_012642.1:g.186008A>C
NG_012642.2:g.186008A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.336A>C	ENSP00000295497.7:p.Ala112=
ENST00000444394.7:c.336A>C	ENSP00000411911.2:p.Ala112=
ENST00000295497.12:c.336A>C	ENSP00000295497.7:p.Ala112=
ENST00000409089.7:c.36A>C	ENSP00000386322.3:p.Ala12=
ENST00000409900.9:c.711A>C MANE Select	ENSP00000386741.4:p.Ala237=
ENST00000413882.6:c.165A>C	ENSP00000410496.2:p.Ala55=
ENST00000425395.6:c.*158A>C	ENSP00000405270.2:n.*158A>C
ENST00000443238.6:c.189A>C	ENSP00000409798.2:p.Ala63=
ENST00000444394.6:c.336A>C	ENSP00000411911.2:p.Ala112=
ENST00000444573.2:c.555A>C	ENSP00000392603.2:p.Ala185=
ENST00000488080.6:n.354A>C
ENST00000650731.1:c.36A>C	ENSP00000499146.1:p.Ala12=
ENST00000650938.1:c.235A>C
ENST00000651246.1:c.303A>C	ENSP00000498484.1:p.Ala101=
ENST00000651373.1:c.225A>C	ENSP00000499174.1:p.Ala75=
ENST00000651501.1:c.*158A>C	ENSP00000498894.1:n.*158A>C
ENST00000651717.1:c.253-11953A>C	ENSP00000499124.1:n.253-11953A>C
ENST00000652036.1:c.336A>C	ENSP00000499139.1:p.Ala112=
ENST00000652154.1:n.609A>C
ENST00000295497.11:c.336A>C	ENSP00000295497.7:p.Ala112=
ENST00000409089.6:c.36A>C	ENSP00000386322.2:p.Ala12=
ENST00000409156.7:c.633A>C	ENSP00000386470.3:p.Ala211=
ENST00000409597.5:c.159A>C	ENSP00000386469.1:p.Ala53=
ENST00000409900.7:c.711A>C	ENSP00000386741.3:p.Ala237=
ENST00000413882.5:c.165A>C	ENSP00000410496.1:p.Ala55=
ENST00000425395.5:c.*262A>C	ENSP00000405270.1:n.*262A>C
ENST00000443238.5:c.189A>C	ENSP00000409798.1:p.Ala63=
ENST00000444394.5:c.36A>C	ENSP00000411911.1:p.Ala12=
ENST00000444573.1:c.336A>C	ENSP00000392603.1:p.Ala112=
ENST00000485882.1:n.170A>C
ENST00000488080.5:n.562A>C
NM_001025201.3:c.633A>C	NP_001020372.2:p.Ala211=
NM_001206602.1:c.336A>C	NP_001193531.1:p.Ala112=
NM_001822.5:c.711A>C	NP_001813.1:p.Ala237=
NR_038133.1:n.577A>C
NM_001025201.4:c.633A>C	NP_001020372.2:p.Ala211=
NM_001206602.2:c.336A>C	NP_001193531.1:p.Ala112=
NM_001371513.1:c.711A>C	NP_001358442.1:p.Ala237=
NM_001371514.1:c.762A>C	NP_001358443.1:p.Ala254=
NM_001822.7:c.711A>C MANE Select	NP_001813.1:p.Ala237=
NR_038133.2:n.579A>C