Canonical Allele Identifier: CA60852605

Gene: CHN1

Linked Data

• dbSNP Id: rs868118367
• gnomAD v4: 2-174824635-A-T
• MyVariant Identifiers: chr2:g.175689363A>T (hg19) ; chr2:g.174824635A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824635A>T , CM000664.2:g.174824635A>T	GRCh38
NC_000002.11:g.175689363A>T , CM000664.1:g.175689363A>T	GRCh37
NC_000002.10:g.175397609A>T	NCBI36
NG_012642.1:g.185808T>A
NG_012642.2:g.185808T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.253-117T>A	ENSP00000295497.7:n.253-117T>A
ENST00000444394.7:c.253-117T>A	ENSP00000411911.2:n.253-117T>A
ENST00000295497.12:c.253-117T>A	ENSP00000295497.7:n.253-117T>A
ENST00000409089.7:c.-48-117T>A	ENSP00000386322.3:n.-48-117T>A
ENST00000409900.9:c.628-117T>A MANE Select	ENSP00000386741.4:n.628-117T>A
ENST00000413882.6:c.82-117T>A	ENSP00000410496.2:n.82-117T>A
ENST00000425395.6:c.*75-117T>A	ENSP00000405270.2:n.*75-117T>A
ENST00000443238.6:c.106-117T>A	ENSP00000409798.2:n.106-117T>A
ENST00000444394.6:c.253-117T>A	ENSP00000411911.2:n.253-117T>A
ENST00000444573.2:c.472-117T>A	ENSP00000392603.2:n.472-117T>A
ENST00000451799.2:c.472-117T>A	ENSP00000416316.2:n.472-117T>A
ENST00000469597.2:c.*276-117T>A	ENSP00000498417.1:n.*276-117T>A
ENST00000488080.6:n.271-117T>A
ENST00000650731.1:c.-48-117T>A	ENSP00000499146.1:n.-48-117T>A
ENST00000650734.1:c.*528-117T>A	ENSP00000498742.1:n.*528-117T>A
ENST00000650770.1:c.*542-117T>A	ENSP00000499036.1:n.*542-117T>A
ENST00000650938.1:c.152-117T>A
ENST00000651063.1:n.679-117T>A
ENST00000651246.1:c.220-117T>A	ENSP00000498484.1:n.220-117T>A
ENST00000651315.1:c.220-117T>A	ENSP00000498692.1:n.220-117T>A
ENST00000651373.1:c.142-117T>A	ENSP00000499174.1:n.142-117T>A
ENST00000651501.1:c.*75-117T>A	ENSP00000498894.1:n.*75-117T>A
ENST00000651580.1:c.*207-117T>A	ENSP00000498631.1:n.*207-117T>A
ENST00000651599.1:c.*112-117T>A	ENSP00000498535.1:n.*112-117T>A
ENST00000651717.1:c.253-12153T>A	ENSP00000499124.1:n.253-12153T>A
ENST00000651803.1:c.*620-117T>A	ENSP00000499007.1:n.*620-117T>A
ENST00000651971.1:c.*428-117T>A	ENSP00000499035.1:n.*428-117T>A
ENST00000652036.1:c.253-117T>A	ENSP00000499139.1:n.253-117T>A
ENST00000652154.1:n.526-117T>A
ENST00000652208.1:c.472-117T>A	ENSP00000498475.1:n.472-117T>A
ENST00000652434.1:c.589-117T>A	ENSP00000498549.1:n.589-117T>A
ENST00000652437.1:n.771-117T>A
ENST00000652674.1:c.*112-117T>A	ENSP00000498599.1:n.*112-117T>A
ENST00000652734.1:n.525-117T>A
ENST00000652756.1:c.472-117T>A	ENSP00000498281.1:n.472-117T>A
ENST00000652768.1:n.520-117T>A
ENST00000295497.11:c.253-117T>A	ENSP00000295497.7:n.253-117T>A
ENST00000409089.6:c.-48-117T>A	ENSP00000386322.2:n.-48-117T>A
ENST00000409156.7:c.550-117T>A	ENSP00000386470.3:n.550-117T>A
ENST00000409597.5:c.76-117T>A	ENSP00000386469.1:n.76-117T>A
ENST00000409900.7:c.628-117T>A	ENSP00000386741.3:n.628-117T>A
ENST00000413882.5:c.82-117T>A	ENSP00000410496.1:n.82-117T>A
ENST00000425395.5:c.*179-117T>A	ENSP00000405270.1:n.*179-117T>A
ENST00000443238.5:c.106-117T>A	ENSP00000409798.1:n.106-117T>A
ENST00000444394.5:c.-48-117T>A	ENSP00000411911.1:n.-48-117T>A
ENST00000444573.1:c.253-117T>A	ENSP00000392603.1:n.253-117T>A
ENST00000485882.1:n.87-117T>A
ENST00000488080.5:n.479-117T>A
NM_001025201.3:c.550-117T>A	NP_001020372.2:n.550-117T>A
NM_001206602.1:c.253-117T>A	NP_001193531.1:n.253-117T>A
NM_001822.5:c.628-117T>A	NP_001813.1:n.628-117T>A
NR_038133.1:n.494-117T>A
NM_001025201.4:c.550-117T>A	NP_001020372.2:n.550-117T>A
NM_001206602.2:c.253-117T>A	NP_001193531.1:n.253-117T>A
NM_001371513.1:c.628-117T>A	NP_001358442.1:n.628-117T>A
NM_001371514.1:c.679-117T>A	NP_001358443.1:n.679-117T>A
NM_001822.7:c.628-117T>A MANE Select	NP_001813.1:n.628-117T>A
NR_038133.2:n.496-117T>A