Canonical Allele Identifier: CA430022791

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689238T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824510T>G , CM000664.2:g.174824510T>G	GRCh38
NC_000002.11:g.175689238T>G , CM000664.1:g.175689238T>G	GRCh37
NC_000002.10:g.175397484T>G	NCBI36
NG_012642.1:g.185933A>C
NG_012642.2:g.185933A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.261A>C	ENSP00000295497.7:p.Thr87=
ENST00000444394.7:c.261A>C	ENSP00000411911.2:p.Thr87=
ENST00000295497.12:c.261A>C	ENSP00000295497.7:p.Thr87=
ENST00000409089.7:c.-40A>C	ENSP00000386322.3:n.-40A>C
ENST00000409900.9:c.636A>C MANE Select	ENSP00000386741.4:p.Thr212=
ENST00000413882.6:c.90A>C	ENSP00000410496.2:p.Thr30=
ENST00000425395.6:c.*83A>C	ENSP00000405270.2:n.*83A>C
ENST00000443238.6:c.114A>C	ENSP00000409798.2:p.Thr38=
ENST00000444394.6:c.261A>C	ENSP00000411911.2:p.Thr87=
ENST00000444573.2:c.480A>C	ENSP00000392603.2:p.Thr160=
ENST00000451799.2:c.480A>C	ENSP00000416316.2:p.Thr160=
ENST00000469597.2:c.*284A>C	ENSP00000498417.1:n.*284A>C
ENST00000488080.6:n.279A>C
ENST00000650731.1:c.-40A>C	ENSP00000499146.1:n.-40A>C
ENST00000650734.1:c.*536A>C	ENSP00000498742.1:n.*536A>C
ENST00000650770.1:c.*550A>C	ENSP00000499036.1:n.*550A>C
ENST00000650938.1:c.160A>C
ENST00000651246.1:c.228A>C	ENSP00000498484.1:p.Thr76=
ENST00000651315.1:c.228A>C	ENSP00000498692.1:p.Thr76=
ENST00000651373.1:c.150A>C	ENSP00000499174.1:p.Thr50=
ENST00000651501.1:c.*83A>C	ENSP00000498894.1:n.*83A>C
ENST00000651580.1:c.*215A>C	ENSP00000498631.1:n.*215A>C
ENST00000651599.1:c.*120A>C	ENSP00000498535.1:n.*120A>C
ENST00000651717.1:c.253-12028A>C	ENSP00000499124.1:n.253-12028A>C
ENST00000651803.1:c.*628A>C	ENSP00000499007.1:n.*628A>C
ENST00000651971.1:c.*436A>C	ENSP00000499035.1:n.*436A>C
ENST00000652036.1:c.261A>C	ENSP00000499139.1:p.Thr87=
ENST00000652154.1:n.534A>C
ENST00000652208.1:c.480A>C	ENSP00000498475.1:p.Thr160=
ENST00000652434.1:c.597A>C	ENSP00000498549.1:p.Thr199=
ENST00000652437.1:n.779A>C
ENST00000652674.1:c.*120A>C	ENSP00000498599.1:n.*120A>C
ENST00000652734.1:n.533A>C
ENST00000652756.1:c.480A>C	ENSP00000498281.1:p.Thr160=
ENST00000652768.1:n.528A>C
ENST00000295497.11:c.261A>C	ENSP00000295497.7:p.Thr87=
ENST00000409089.6:c.-40A>C	ENSP00000386322.2:n.-40A>C
ENST00000409156.7:c.558A>C	ENSP00000386470.3:p.Thr186=
ENST00000409597.5:c.84A>C	ENSP00000386469.1:p.Thr28=
ENST00000409900.7:c.636A>C	ENSP00000386741.3:p.Thr212=
ENST00000413882.5:c.90A>C	ENSP00000410496.1:p.Thr30=
ENST00000425395.5:c.*187A>C	ENSP00000405270.1:n.*187A>C
ENST00000443238.5:c.114A>C	ENSP00000409798.1:p.Thr38=
ENST00000444394.5:c.-40A>C	ENSP00000411911.1:n.-40A>C
ENST00000444573.1:c.261A>C	ENSP00000392603.1:p.Thr87=
ENST00000485882.1:n.95A>C
ENST00000488080.5:n.487A>C
NM_001025201.3:c.558A>C	NP_001020372.2:p.Thr186=
NM_001206602.1:c.261A>C	NP_001193531.1:p.Thr87=
NM_001822.5:c.636A>C	NP_001813.1:p.Thr212=
NR_038133.1:n.502A>C
NM_001025201.4:c.558A>C	NP_001020372.2:p.Thr186=
NM_001206602.2:c.261A>C	NP_001193531.1:p.Thr87=
NM_001371513.1:c.636A>C	NP_001358442.1:p.Thr212=
NM_001371514.1:c.687A>C	NP_001358443.1:p.Thr229=
NM_001822.7:c.636A>C MANE Select	NP_001813.1:p.Thr212=
NR_038133.2:n.504A>C