Canonical Allele Identifier: CA349347952

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824511-G-C
• MyVariant Identifiers: chr2:g.175689239G>C (hg19) ; chr2:g.174824511G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824511G>C , CM000664.2:g.174824511G>C	GRCh38
NC_000002.11:g.175689239G>C , CM000664.1:g.175689239G>C	GRCh37
NC_000002.10:g.175397485G>C	NCBI36
NG_012642.1:g.185932C>G
NG_012642.2:g.185932C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.260C>G	ENSP00000295497.7:p.Thr87Arg
ENST00000444394.7:c.260C>G	ENSP00000411911.2:p.Thr87Arg
ENST00000295497.12:c.260C>G	ENSP00000295497.7:p.Thr87Arg
ENST00000409089.7:c.-41C>G	ENSP00000386322.3:n.-41C>G
ENST00000409900.9:c.635C>G MANE Select	ENSP00000386741.4:p.Thr212Arg
ENST00000413882.6:c.89C>G	ENSP00000410496.2:p.Thr30Arg
ENST00000425395.6:c.*82C>G	ENSP00000405270.2:n.*82C>G
ENST00000443238.6:c.113C>G	ENSP00000409798.2:p.Thr38Arg
ENST00000444394.6:c.260C>G	ENSP00000411911.2:p.Thr87Arg
ENST00000444573.2:c.479C>G	ENSP00000392603.2:p.Thr160Arg
ENST00000451799.2:c.479C>G	ENSP00000416316.2:p.Thr160Arg
ENST00000469597.2:c.*283C>G	ENSP00000498417.1:n.*283C>G
ENST00000488080.6:n.278C>G
ENST00000650731.1:c.-41C>G	ENSP00000499146.1:n.-41C>G
ENST00000650734.1:c.*535C>G	ENSP00000498742.1:n.*535C>G
ENST00000650770.1:c.*549C>G	ENSP00000499036.1:n.*549C>G
ENST00000650938.1:c.159C>G
ENST00000651246.1:c.227C>G	ENSP00000498484.1:p.Thr76Arg
ENST00000651315.1:c.227C>G	ENSP00000498692.1:p.Thr76Arg
ENST00000651373.1:c.149C>G	ENSP00000499174.1:p.Thr50Arg
ENST00000651501.1:c.*82C>G	ENSP00000498894.1:n.*82C>G
ENST00000651580.1:c.*214C>G	ENSP00000498631.1:n.*214C>G
ENST00000651599.1:c.*119C>G	ENSP00000498535.1:n.*119C>G
ENST00000651717.1:c.253-12029C>G	ENSP00000499124.1:n.253-12029C>G
ENST00000651803.1:c.*627C>G	ENSP00000499007.1:n.*627C>G
ENST00000651971.1:c.*435C>G	ENSP00000499035.1:n.*435C>G
ENST00000652036.1:c.260C>G	ENSP00000499139.1:p.Thr87Arg
ENST00000652154.1:n.533C>G
ENST00000652208.1:c.479C>G	ENSP00000498475.1:p.Thr160Arg
ENST00000652434.1:c.596C>G	ENSP00000498549.1:p.Thr199Arg
ENST00000652437.1:n.778C>G
ENST00000652674.1:c.*119C>G	ENSP00000498599.1:n.*119C>G
ENST00000652734.1:n.532C>G
ENST00000652756.1:c.479C>G	ENSP00000498281.1:p.Thr160Arg
ENST00000652768.1:n.527C>G
ENST00000295497.11:c.260C>G	ENSP00000295497.7:p.Thr87Arg
ENST00000409089.6:c.-41C>G	ENSP00000386322.2:n.-41C>G
ENST00000409156.7:c.557C>G	ENSP00000386470.3:p.Thr186Arg
ENST00000409597.5:c.83C>G	ENSP00000386469.1:p.Thr28Arg
ENST00000409900.7:c.635C>G	ENSP00000386741.3:p.Thr212Arg
ENST00000413882.5:c.89C>G	ENSP00000410496.1:p.Thr30Arg
ENST00000425395.5:c.*186C>G	ENSP00000405270.1:n.*186C>G
ENST00000443238.5:c.113C>G	ENSP00000409798.1:p.Thr38Arg
ENST00000444394.5:c.-41C>G	ENSP00000411911.1:n.-41C>G
ENST00000444573.1:c.260C>G	ENSP00000392603.1:p.Thr87Arg
ENST00000485882.1:n.94C>G
ENST00000488080.5:n.486C>G
NM_001025201.3:c.557C>G	NP_001020372.2:p.Thr186Arg
NM_001206602.1:c.260C>G	NP_001193531.1:p.Thr87Arg
NM_001822.5:c.635C>G	NP_001813.1:p.Thr212Arg
NR_038133.1:n.501C>G
NM_001025201.4:c.557C>G	NP_001020372.2:p.Thr186Arg
NM_001206602.2:c.260C>G	NP_001193531.1:p.Thr87Arg
NM_001371513.1:c.635C>G	NP_001358442.1:p.Thr212Arg
NM_001371514.1:c.686C>G	NP_001358443.1:p.Thr229Arg
NM_001822.7:c.635C>G MANE Select	NP_001813.1:p.Thr212Arg
NR_038133.2:n.503C>G