Canonical Allele Identifier: CA761007798

Gene: CHN1

Linked Data

• dbSNP Id: rs1375341967
• gnomAD v3: 2-174824698-G-A
• gnomAD v4: 2-174824698-G-A
• MyVariant Identifiers: chr2:g.175689426G>A (hg19) ; chr2:g.174824698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824698G>A , CM000664.2:g.174824698G>A	GRCh38
NC_000002.11:g.175689426G>A , CM000664.1:g.175689426G>A	GRCh37
NC_000002.10:g.175397672G>A	NCBI36
NG_012642.1:g.185745C>T
NG_012642.2:g.185745C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.253-180C>T	ENSP00000295497.7:n.253-180C>T
ENST00000444394.7:c.253-180C>T	ENSP00000411911.2:n.253-180C>T
ENST00000295497.12:c.253-180C>T	ENSP00000295497.7:n.253-180C>T
ENST00000409089.7:c.-48-180C>T	ENSP00000386322.3:n.-48-180C>T
ENST00000409900.9:c.628-180C>T MANE Select	ENSP00000386741.4:n.628-180C>T
ENST00000413882.6:c.82-180C>T	ENSP00000410496.2:n.82-180C>T
ENST00000425395.6:c.*75-180C>T	ENSP00000405270.2:n.*75-180C>T
ENST00000443238.6:c.106-180C>T	ENSP00000409798.2:n.106-180C>T
ENST00000444394.6:c.253-180C>T	ENSP00000411911.2:n.253-180C>T
ENST00000444573.2:c.472-180C>T	ENSP00000392603.2:n.472-180C>T
ENST00000451799.2:c.472-180C>T	ENSP00000416316.2:n.472-180C>T
ENST00000469597.2:c.*276-180C>T	ENSP00000498417.1:n.*276-180C>T
ENST00000488080.6:n.271-180C>T
ENST00000650731.1:c.-48-180C>T	ENSP00000499146.1:n.-48-180C>T
ENST00000650734.1:c.*528-180C>T	ENSP00000498742.1:n.*528-180C>T
ENST00000650770.1:c.*542-180C>T	ENSP00000499036.1:n.*542-180C>T
ENST00000650938.1:c.152-180C>T
ENST00000651063.1:n.679-180C>T
ENST00000651246.1:c.220-180C>T	ENSP00000498484.1:n.220-180C>T
ENST00000651315.1:c.220-180C>T	ENSP00000498692.1:n.220-180C>T
ENST00000651373.1:c.142-180C>T	ENSP00000499174.1:n.142-180C>T
ENST00000651501.1:c.*75-180C>T	ENSP00000498894.1:n.*75-180C>T
ENST00000651580.1:c.*207-180C>T	ENSP00000498631.1:n.*207-180C>T
ENST00000651599.1:c.*112-180C>T	ENSP00000498535.1:n.*112-180C>T
ENST00000651717.1:c.253-12216C>T	ENSP00000499124.1:n.253-12216C>T
ENST00000651803.1:c.*620-180C>T	ENSP00000499007.1:n.*620-180C>T
ENST00000651971.1:c.*428-180C>T	ENSP00000499035.1:n.*428-180C>T
ENST00000652036.1:c.253-180C>T	ENSP00000499139.1:n.253-180C>T
ENST00000652154.1:n.526-180C>T
ENST00000652208.1:c.472-180C>T	ENSP00000498475.1:n.472-180C>T
ENST00000652434.1:c.589-180C>T	ENSP00000498549.1:n.589-180C>T
ENST00000652437.1:n.771-180C>T
ENST00000652674.1:c.*112-180C>T	ENSP00000498599.1:n.*112-180C>T
ENST00000652734.1:n.525-180C>T
ENST00000652756.1:c.472-180C>T	ENSP00000498281.1:n.472-180C>T
ENST00000652768.1:n.520-180C>T
ENST00000295497.11:c.253-180C>T	ENSP00000295497.7:n.253-180C>T
ENST00000409089.6:c.-48-180C>T	ENSP00000386322.2:n.-48-180C>T
ENST00000409156.7:c.550-180C>T	ENSP00000386470.3:n.550-180C>T
ENST00000409597.5:c.76-180C>T	ENSP00000386469.1:n.76-180C>T
ENST00000409900.7:c.628-180C>T	ENSP00000386741.3:n.628-180C>T
ENST00000413882.5:c.82-180C>T	ENSP00000410496.1:n.82-180C>T
ENST00000425395.5:c.*179-180C>T	ENSP00000405270.1:n.*179-180C>T
ENST00000443238.5:c.106-180C>T	ENSP00000409798.1:n.106-180C>T
ENST00000444394.5:c.-48-180C>T	ENSP00000411911.1:n.-48-180C>T
ENST00000444573.1:c.253-180C>T	ENSP00000392603.1:n.253-180C>T
ENST00000485882.1:n.87-180C>T
ENST00000488080.5:n.479-180C>T
NM_001025201.3:c.550-180C>T	NP_001020372.2:n.550-180C>T
NM_001206602.1:c.253-180C>T	NP_001193531.1:n.253-180C>T
NM_001822.5:c.628-180C>T	NP_001813.1:n.628-180C>T
NR_038133.1:n.494-180C>T
NM_001025201.4:c.550-180C>T	NP_001020372.2:n.550-180C>T
NM_001206602.2:c.253-180C>T	NP_001193531.1:n.253-180C>T
NM_001371513.1:c.628-180C>T	NP_001358442.1:n.628-180C>T
NM_001371514.1:c.679-180C>T	NP_001358443.1:n.679-180C>T
NM_001822.7:c.628-180C>T MANE Select	NP_001813.1:n.628-180C>T
NR_038133.2:n.496-180C>T