Canonical Allele Identifier: CA349347847

Gene: CHN1

Linked Data

• ClinVar Variation Id: 559835
• ClinVar RCV Id: RCV000677620 ; RCV001281600
• MyVariant Identifiers: chr2:g.175689213A>G (hg19) ; chr2:g.174824485A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824485A>G , CM000664.2:g.174824485A>G	GRCh38
NC_000002.11:g.175689213A>G , CM000664.1:g.175689213A>G	GRCh37
NC_000002.10:g.175397459A>G	NCBI36
NG_012642.1:g.185958T>C
NG_012642.2:g.185958T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.286T>C	ENSP00000295497.7:p.Tyr96His
ENST00000444394.7:c.286T>C	ENSP00000411911.2:p.Tyr96His
ENST00000295497.12:c.286T>C	ENSP00000295497.7:p.Tyr96His
ENST00000409089.7:c.-15T>C	ENSP00000386322.3:n.-15T>C
ENST00000409900.9:c.661T>C MANE Select	ENSP00000386741.4:p.Tyr221His
ENST00000413882.6:c.115T>C	ENSP00000410496.2:p.Tyr39His
ENST00000425395.6:c.*108T>C	ENSP00000405270.2:n.*108T>C
ENST00000443238.6:c.139T>C	ENSP00000409798.2:p.Tyr47His
ENST00000444394.6:c.286T>C	ENSP00000411911.2:p.Tyr96His
ENST00000444573.2:c.505T>C	ENSP00000392603.2:p.Tyr169His
ENST00000488080.6:n.304T>C
ENST00000650731.1:c.-15T>C	ENSP00000499146.1:n.-15T>C
ENST00000650938.1:c.185T>C
ENST00000651246.1:c.253T>C	ENSP00000498484.1:p.Tyr85His
ENST00000651373.1:c.175T>C	ENSP00000499174.1:p.Tyr59His
ENST00000651501.1:c.*108T>C	ENSP00000498894.1:n.*108T>C
ENST00000651717.1:c.253-12003T>C	ENSP00000499124.1:n.253-12003T>C
ENST00000652036.1:c.286T>C	ENSP00000499139.1:p.Tyr96His
ENST00000652154.1:n.559T>C
ENST00000295497.11:c.286T>C	ENSP00000295497.7:p.Tyr96His
ENST00000409089.6:c.-15T>C	ENSP00000386322.2:n.-15T>C
ENST00000409156.7:c.583T>C	ENSP00000386470.3:p.Tyr195His
ENST00000409597.5:c.109T>C	ENSP00000386469.1:p.Tyr37His
ENST00000409900.7:c.661T>C	ENSP00000386741.3:p.Tyr221His
ENST00000413882.5:c.115T>C	ENSP00000410496.1:p.Tyr39His
ENST00000425395.5:c.*212T>C	ENSP00000405270.1:n.*212T>C
ENST00000443238.5:c.139T>C	ENSP00000409798.1:p.Tyr47His
ENST00000444394.5:c.-15T>C	ENSP00000411911.1:n.-15T>C
ENST00000444573.1:c.286T>C	ENSP00000392603.1:p.Tyr96His
ENST00000485882.1:n.120T>C
ENST00000488080.5:n.512T>C
NM_001025201.3:c.583T>C	NP_001020372.2:p.Tyr195His
NM_001206602.1:c.286T>C	NP_001193531.1:p.Tyr96His
NM_001822.5:c.661T>C	NP_001813.1:p.Tyr221His
NR_038133.1:n.527T>C
NM_001025201.4:c.583T>C	NP_001020372.2:p.Tyr195His
NM_001206602.2:c.286T>C	NP_001193531.1:p.Tyr96His
NM_001371513.1:c.661T>C	NP_001358442.1:p.Tyr221His
NM_001371514.1:c.712T>C	NP_001358443.1:p.Tyr238His
NM_001822.7:c.661T>C MANE Select	NP_001813.1:p.Tyr221His
NR_038133.2:n.529T>C