Canonical Allele Identifier: CA1308865714
Gene: CHN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174824517A= , CM000664.2:g.174824517A= GRCh38
NC_000002.11:g.175689245A= , CM000664.1:g.175689245A= GRCh37
NC_000002.10:g.175397491A= NCBI36
NG_012642.1:g.185926T=
NG_012642.2:g.185926T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000295497.13:c.254T= ENSP00000295497.7:p.Val85=
ENST00000444394.7:c.254T= ENSP00000411911.2:p.Val85=
ENST00000295497.12:c.254T= ENSP00000295497.7:p.Val85=
ENST00000409089.7:c.-47T= ENSP00000386322.3:n.-47T=
ENST00000409900.9:c.629T= MANE Select ENSP00000386741.4:p.Val210=
ENST00000413882.6:c.83T= ENSP00000410496.2:p.Val28=
ENST00000425395.6:c.*76T= ENSP00000405270.2:n.*76T=
ENST00000443238.6:c.107T= ENSP00000409798.2:p.Val36=
ENST00000444394.6:c.254T= ENSP00000411911.2:p.Val85=
ENST00000444573.2:c.473T= ENSP00000392603.2:p.Val158=
ENST00000451799.2:c.473T= ENSP00000416316.2:p.Val158=
ENST00000469597.2:c.*277T= ENSP00000498417.1:n.*277T=
ENST00000488080.6:n.272T=
ENST00000650731.1:c.-47T= ENSP00000499146.1:n.-47T=
ENST00000650734.1:c.*529T= ENSP00000498742.1:n.*529T=
ENST00000650770.1:c.*543T= ENSP00000499036.1:n.*543T=
ENST00000650938.1:c.153T=
ENST00000651063.1:n.680T=
ENST00000651246.1:c.221T= ENSP00000498484.1:p.Val74=
ENST00000651315.1:c.221T= ENSP00000498692.1:p.Val74=
ENST00000651373.1:c.143T= ENSP00000499174.1:p.Val48=
ENST00000651501.1:c.*76T= ENSP00000498894.1:n.*76T=
ENST00000651580.1:c.*208T= ENSP00000498631.1:n.*208T=
ENST00000651599.1:c.*113T= ENSP00000498535.1:n.*113T=
ENST00000651717.1:c.253-12035T= ENSP00000499124.1:n.253-12035T=
ENST00000651803.1:c.*621T= ENSP00000499007.1:n.*621T=
ENST00000651971.1:c.*429T= ENSP00000499035.1:n.*429T=
ENST00000652036.1:c.254T= ENSP00000499139.1:p.Val85=
ENST00000652154.1:n.527T=
ENST00000652208.1:c.473T= ENSP00000498475.1:p.Val158=
ENST00000652434.1:c.590T= ENSP00000498549.1:p.Val197=
ENST00000652437.1:n.772T=
ENST00000652674.1:c.*113T= ENSP00000498599.1:n.*113T=
ENST00000652734.1:n.526T=
ENST00000652756.1:c.473T= ENSP00000498281.1:p.Val158=
ENST00000652768.1:n.521T=
ENST00000295497.11:c.254T= ENSP00000295497.7:p.Val85=
ENST00000409089.6:c.-47T= ENSP00000386322.2:n.-47T=
ENST00000409156.7:c.551T= ENSP00000386470.3:p.Val184=
ENST00000409597.5:c.77T= ENSP00000386469.1:p.Val26=
ENST00000409900.7:c.629T= ENSP00000386741.3:p.Val210=
ENST00000413882.5:c.83T= ENSP00000410496.1:p.Val28=
ENST00000425395.5:c.*180T= ENSP00000405270.1:n.*180T=
ENST00000443238.5:c.107T= ENSP00000409798.1:p.Val36=
ENST00000444394.5:c.-47T= ENSP00000411911.1:n.-47T=
ENST00000444573.1:c.254T= ENSP00000392603.1:p.Val85=
ENST00000485882.1:n.88T=
ENST00000488080.5:n.480T=
NM_001025201.3:c.551T= NP_001020372.2:p.Val184=
NM_001206602.1:c.254T= NP_001193531.1:p.Val85=
NM_001822.5:c.629T= NP_001813.1:p.Val210=
NR_038133.1:n.495T=
NM_001025201.4:c.551T= NP_001020372.2:p.Val184=
NM_001206602.2:c.254T= NP_001193531.1:p.Val85=
NM_001371513.1:c.629T= NP_001358442.1:p.Val210=
NM_001371514.1:c.680T= NP_001358443.1:p.Val227=
NM_001822.7:c.629T= MANE Select NP_001813.1:p.Val210=
NR_038133.2:n.497T=