Canonical Allele Identifier: CA2662024307

Gene: CHN1

Linked Data

• dbSNP Id: rs375494218
• gnomAD v4: 2-174824521-G-GAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824530_174824532dup , CM000664.2:g.174824530_174824532dup	GRCh38
NC_000002.11:g.175689258_175689260dup , CM000664.1:g.175689258_175689260dup	GRCh37
NC_000002.10:g.175397504_175397506dup	NCBI36
NG_012642.1:g.185919_185921dup
NG_012642.2:g.185919_185921dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.253-6_253-4dup	ENSP00000295497.7:n.253-6_253-4dup
ENST00000444394.7:c.253-6_253-4dup	ENSP00000411911.2:n.253-6_253-4dup
ENST00000295497.12:c.253-6_253-4dup	ENSP00000295497.7:n.253-6_253-4dup
ENST00000409089.7:c.-48-6_-48-4dup	ENSP00000386322.3:n.-48-6_-48-4dup
ENST00000409900.9:c.628-6_628-4dup MANE Select	ENSP00000386741.4:n.628-6_628-4dup
ENST00000413882.6:c.82-6_82-4dup	ENSP00000410496.2:n.82-6_82-4dup
ENST00000425395.6:c.*75-6_*75-4dup	ENSP00000405270.2:n.*75-6_*75-4dup
ENST00000443238.6:c.106-6_106-4dup	ENSP00000409798.2:n.106-6_106-4dup
ENST00000444394.6:c.253-6_253-4dup	ENSP00000411911.2:n.253-6_253-4dup
ENST00000444573.2:c.472-6_472-4dup	ENSP00000392603.2:n.472-6_472-4dup
ENST00000451799.2:c.472-6_472-4dup	ENSP00000416316.2:n.472-6_472-4dup
ENST00000469597.2:c.*276-6_*276-4dup	ENSP00000498417.1:n.*276-6_*276-4dup
ENST00000488080.6:n.271-6_271-4dup
ENST00000650731.1:c.-48-6_-48-4dup	ENSP00000499146.1:n.-48-6_-48-4dup
ENST00000650734.1:c.*528-6_*528-4dup	ENSP00000498742.1:n.*528-6_*528-4dup
ENST00000650770.1:c.*542-6_*542-4dup	ENSP00000499036.1:n.*542-6_*542-4dup
ENST00000650938.1:c.152-6_152-4dup
ENST00000651063.1:n.679-6_679-4dup
ENST00000651246.1:c.220-6_220-4dup	ENSP00000498484.1:n.220-6_220-4dup
ENST00000651315.1:c.220-6_220-4dup	ENSP00000498692.1:n.220-6_220-4dup
ENST00000651373.1:c.142-6_142-4dup	ENSP00000499174.1:n.142-6_142-4dup
ENST00000651501.1:c.*75-6_*75-4dup	ENSP00000498894.1:n.*75-6_*75-4dup
ENST00000651580.1:c.*207-6_*207-4dup	ENSP00000498631.1:n.*207-6_*207-4dup
ENST00000651599.1:c.*112-6_*112-4dup	ENSP00000498535.1:n.*112-6_*112-4dup
ENST00000651717.1:c.253-12042_253-12040dup	ENSP00000499124.1:n.253-12042_253-12040dup
ENST00000651803.1:c.*620-6_*620-4dup	ENSP00000499007.1:n.*620-6_*620-4dup
ENST00000651971.1:c.*428-6_*428-4dup	ENSP00000499035.1:n.*428-6_*428-4dup
ENST00000652036.1:c.253-6_253-4dup	ENSP00000499139.1:n.253-6_253-4dup
ENST00000652154.1:n.526-6_526-4dup
ENST00000652208.1:c.472-6_472-4dup	ENSP00000498475.1:n.472-6_472-4dup
ENST00000652434.1:c.589-6_589-4dup	ENSP00000498549.1:n.589-6_589-4dup
ENST00000652437.1:n.771-6_771-4dup
ENST00000652674.1:c.*112-6_*112-4dup	ENSP00000498599.1:n.*112-6_*112-4dup
ENST00000652734.1:n.525-6_525-4dup
ENST00000652756.1:c.472-6_472-4dup	ENSP00000498281.1:n.472-6_472-4dup
ENST00000652768.1:n.520-6_520-4dup
ENST00000295497.11:c.253-6_253-4dup	ENSP00000295497.7:n.253-6_253-4dup
ENST00000409089.6:c.-48-6_-48-4dup	ENSP00000386322.2:n.-48-6_-48-4dup
ENST00000409156.7:c.550-6_550-4dup	ENSP00000386470.3:n.550-6_550-4dup
ENST00000409597.5:c.76-6_76-4dup	ENSP00000386469.1:n.76-6_76-4dup
ENST00000409900.7:c.628-6_628-4dup	ENSP00000386741.3:n.628-6_628-4dup
ENST00000413882.5:c.82-6_82-4dup	ENSP00000410496.1:n.82-6_82-4dup
ENST00000425395.5:c.*179-6_*179-4dup	ENSP00000405270.1:n.*179-6_*179-4dup
ENST00000443238.5:c.106-6_106-4dup	ENSP00000409798.1:n.106-6_106-4dup
ENST00000444394.5:c.-48-6_-48-4dup	ENSP00000411911.1:n.-48-6_-48-4dup
ENST00000444573.1:c.253-6_253-4dup	ENSP00000392603.1:n.253-6_253-4dup
ENST00000485882.1:n.87-6_87-4dup
ENST00000488080.5:n.479-6_479-4dup
NM_001025201.3:c.550-6_550-4dup	NP_001020372.2:n.550-6_550-4dup
NM_001206602.1:c.253-6_253-4dup	NP_001193531.1:n.253-6_253-4dup
NM_001822.5:c.628-6_628-4dup	NP_001813.1:n.628-6_628-4dup
NR_038133.1:n.494-6_494-4dup
NM_001025201.4:c.550-6_550-4dup	NP_001020372.2:n.550-6_550-4dup
NM_001206602.2:c.253-6_253-4dup	NP_001193531.1:n.253-6_253-4dup
NM_001371513.1:c.628-6_628-4dup	NP_001358442.1:n.628-6_628-4dup
NM_001371514.1:c.679-6_679-4dup	NP_001358443.1:n.679-6_679-4dup
NM_001822.7:c.628-6_628-4dup MANE Select	NP_001813.1:n.628-6_628-4dup
NR_038133.2:n.496-6_496-4dup