Canonical Allele Identifier: CA349347903

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824497-G-T
• MyVariant Identifiers: chr2:g.175689225G>T (hg19) ; chr2:g.174824497G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824497G>T , CM000664.2:g.174824497G>T	GRCh38
NC_000002.11:g.175689225G>T , CM000664.1:g.175689225G>T	GRCh37
NC_000002.10:g.175397471G>T	NCBI36
NG_012642.1:g.185946C>A
NG_012642.2:g.185946C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.274C>A	ENSP00000295497.7:p.His92Asn
ENST00000444394.7:c.274C>A	ENSP00000411911.2:p.His92Asn
ENST00000295497.12:c.274C>A	ENSP00000295497.7:p.His92Asn
ENST00000409089.7:c.-27C>A	ENSP00000386322.3:n.-27C>A
ENST00000409900.9:c.649C>A MANE Select	ENSP00000386741.4:p.His217Asn
ENST00000413882.6:c.103C>A	ENSP00000410496.2:p.His35Asn
ENST00000425395.6:c.*96C>A	ENSP00000405270.2:n.*96C>A
ENST00000443238.6:c.127C>A	ENSP00000409798.2:p.His43Asn
ENST00000444394.6:c.274C>A	ENSP00000411911.2:p.His92Asn
ENST00000444573.2:c.493C>A	ENSP00000392603.2:p.His165Asn
ENST00000451799.2:c.493C>A	ENSP00000416316.2:p.His165Asn
ENST00000469597.2:c.*297C>A	ENSP00000498417.1:n.*297C>A
ENST00000488080.6:n.292C>A
ENST00000650731.1:c.-27C>A	ENSP00000499146.1:n.-27C>A
ENST00000650734.1:c.*549C>A	ENSP00000498742.1:n.*549C>A
ENST00000650770.1:c.*563C>A	ENSP00000499036.1:n.*563C>A
ENST00000650938.1:c.173C>A
ENST00000651246.1:c.241C>A	ENSP00000498484.1:p.His81Asn
ENST00000651315.1:c.241C>A	ENSP00000498692.1:p.His81Asn
ENST00000651373.1:c.163C>A	ENSP00000499174.1:p.His55Asn
ENST00000651501.1:c.*96C>A	ENSP00000498894.1:n.*96C>A
ENST00000651580.1:c.*228C>A	ENSP00000498631.1:n.*228C>A
ENST00000651599.1:c.*133C>A	ENSP00000498535.1:n.*133C>A
ENST00000651717.1:c.253-12015C>A	ENSP00000499124.1:n.253-12015C>A
ENST00000651803.1:c.*641C>A	ENSP00000499007.1:n.*641C>A
ENST00000651971.1:c.*449C>A	ENSP00000499035.1:n.*449C>A
ENST00000652036.1:c.274C>A	ENSP00000499139.1:p.His92Asn
ENST00000652154.1:n.547C>A
ENST00000652208.1:c.493C>A	ENSP00000498475.1:p.His165Asn
ENST00000652434.1:c.610C>A	ENSP00000498549.1:p.His204Asn
ENST00000652437.1:n.792C>A
ENST00000652674.1:c.*133C>A	ENSP00000498599.1:n.*133C>A
ENST00000652734.1:n.546C>A
ENST00000652756.1:c.493C>A	ENSP00000498281.1:p.His165Asn
ENST00000652768.1:n.541C>A
ENST00000295497.11:c.274C>A	ENSP00000295497.7:p.His92Asn
ENST00000409089.6:c.-27C>A	ENSP00000386322.2:n.-27C>A
ENST00000409156.7:c.571C>A	ENSP00000386470.3:p.His191Asn
ENST00000409597.5:c.97C>A	ENSP00000386469.1:p.His33Asn
ENST00000409900.7:c.649C>A	ENSP00000386741.3:p.His217Asn
ENST00000413882.5:c.103C>A	ENSP00000410496.1:p.His35Asn
ENST00000425395.5:c.*200C>A	ENSP00000405270.1:n.*200C>A
ENST00000443238.5:c.127C>A	ENSP00000409798.1:p.His43Asn
ENST00000444394.5:c.-27C>A	ENSP00000411911.1:n.-27C>A
ENST00000444573.1:c.274C>A	ENSP00000392603.1:p.His92Asn
ENST00000485882.1:n.108C>A
ENST00000488080.5:n.500C>A
NM_001025201.3:c.571C>A	NP_001020372.2:p.His191Asn
NM_001206602.1:c.274C>A	NP_001193531.1:p.His92Asn
NM_001822.5:c.649C>A	NP_001813.1:p.His217Asn
NR_038133.1:n.515C>A
NM_001025201.4:c.571C>A	NP_001020372.2:p.His191Asn
NM_001206602.2:c.274C>A	NP_001193531.1:p.His92Asn
NM_001371513.1:c.649C>A	NP_001358442.1:p.His217Asn
NM_001371514.1:c.700C>A	NP_001358443.1:p.His234Asn
NM_001822.7:c.649C>A MANE Select	NP_001813.1:p.His217Asn
NR_038133.2:n.517C>A