Canonical Allele Identifier: CA430022796

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689244C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824516C>G , CM000664.2:g.174824516C>G	GRCh38
NC_000002.11:g.175689244C>G , CM000664.1:g.175689244C>G	GRCh37
NC_000002.10:g.175397490C>G	NCBI36
NG_012642.1:g.185927G>C
NG_012642.2:g.185927G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.255G>C	ENSP00000295497.7:p.Val85=
ENST00000444394.7:c.255G>C	ENSP00000411911.2:p.Val85=
ENST00000295497.12:c.255G>C	ENSP00000295497.7:p.Val85=
ENST00000409089.7:c.-46G>C	ENSP00000386322.3:n.-46G>C
ENST00000409900.9:c.630G>C MANE Select	ENSP00000386741.4:p.Val210=
ENST00000413882.6:c.84G>C	ENSP00000410496.2:p.Val28=
ENST00000425395.6:c.*77G>C	ENSP00000405270.2:n.*77G>C
ENST00000443238.6:c.108G>C	ENSP00000409798.2:p.Val36=
ENST00000444394.6:c.255G>C	ENSP00000411911.2:p.Val85=
ENST00000444573.2:c.474G>C	ENSP00000392603.2:p.Val158=
ENST00000451799.2:c.474G>C	ENSP00000416316.2:p.Val158=
ENST00000469597.2:c.*278G>C	ENSP00000498417.1:n.*278G>C
ENST00000488080.6:n.273G>C
ENST00000650731.1:c.-46G>C	ENSP00000499146.1:n.-46G>C
ENST00000650734.1:c.*530G>C	ENSP00000498742.1:n.*530G>C
ENST00000650770.1:c.*544G>C	ENSP00000499036.1:n.*544G>C
ENST00000650938.1:c.154G>C
ENST00000651063.1:n.681G>C
ENST00000651246.1:c.222G>C	ENSP00000498484.1:p.Val74=
ENST00000651315.1:c.222G>C	ENSP00000498692.1:p.Val74=
ENST00000651373.1:c.144G>C	ENSP00000499174.1:p.Val48=
ENST00000651501.1:c.*77G>C	ENSP00000498894.1:n.*77G>C
ENST00000651580.1:c.*209G>C	ENSP00000498631.1:n.*209G>C
ENST00000651599.1:c.*114G>C	ENSP00000498535.1:n.*114G>C
ENST00000651717.1:c.253-12034G>C	ENSP00000499124.1:n.253-12034G>C
ENST00000651803.1:c.*622G>C	ENSP00000499007.1:n.*622G>C
ENST00000651971.1:c.*430G>C	ENSP00000499035.1:n.*430G>C
ENST00000652036.1:c.255G>C	ENSP00000499139.1:p.Val85=
ENST00000652154.1:n.528G>C
ENST00000652208.1:c.474G>C	ENSP00000498475.1:p.Val158=
ENST00000652434.1:c.591G>C	ENSP00000498549.1:p.Val197=
ENST00000652437.1:n.773G>C
ENST00000652674.1:c.*114G>C	ENSP00000498599.1:n.*114G>C
ENST00000652734.1:n.527G>C
ENST00000652756.1:c.474G>C	ENSP00000498281.1:p.Val158=
ENST00000652768.1:n.522G>C
ENST00000295497.11:c.255G>C	ENSP00000295497.7:p.Val85=
ENST00000409089.6:c.-46G>C	ENSP00000386322.2:n.-46G>C
ENST00000409156.7:c.552G>C	ENSP00000386470.3:p.Val184=
ENST00000409597.5:c.78G>C	ENSP00000386469.1:p.Val26=
ENST00000409900.7:c.630G>C	ENSP00000386741.3:p.Val210=
ENST00000413882.5:c.84G>C	ENSP00000410496.1:p.Val28=
ENST00000425395.5:c.*181G>C	ENSP00000405270.1:n.*181G>C
ENST00000443238.5:c.108G>C	ENSP00000409798.1:p.Val36=
ENST00000444394.5:c.-46G>C	ENSP00000411911.1:n.-46G>C
ENST00000444573.1:c.255G>C	ENSP00000392603.1:p.Val85=
ENST00000485882.1:n.89G>C
ENST00000488080.5:n.481G>C
NM_001025201.3:c.552G>C	NP_001020372.2:p.Val184=
NM_001206602.1:c.255G>C	NP_001193531.1:p.Val85=
NM_001822.5:c.630G>C	NP_001813.1:p.Val210=
NR_038133.1:n.496G>C
NM_001025201.4:c.552G>C	NP_001020372.2:p.Val184=
NM_001206602.2:c.255G>C	NP_001193531.1:p.Val85=
NM_001371513.1:c.630G>C	NP_001358442.1:p.Val210=
NM_001371514.1:c.681G>C	NP_001358443.1:p.Val227=
NM_001822.7:c.630G>C MANE Select	NP_001813.1:p.Val210=
NR_038133.2:n.498G>C