Canonical Allele Identifier: CA430022767

Gene: CHN1

Linked Data

• dbSNP Id: rs1425197965
• gnomAD v2: 2-175689223-G-A
• gnomAD v4: 2-174824495-G-A
• MyVariant Identifiers: chr2:g.175689223G>A (hg19) ; chr2:g.174824495G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824495G>A , CM000664.2:g.174824495G>A	GRCh38
NC_000002.11:g.175689223G>A , CM000664.1:g.175689223G>A	GRCh37
NC_000002.10:g.175397469G>A	NCBI36
NG_012642.1:g.185948C>T
NG_012642.2:g.185948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.276C>T	ENSP00000295497.7:p.His92=
ENST00000444394.7:c.276C>T	ENSP00000411911.2:p.His92=
ENST00000295497.12:c.276C>T	ENSP00000295497.7:p.His92=
ENST00000409089.7:c.-25C>T	ENSP00000386322.3:n.-25C>T
ENST00000409900.9:c.651C>T MANE Select	ENSP00000386741.4:p.His217=
ENST00000413882.6:c.105C>T	ENSP00000410496.2:p.His35=
ENST00000425395.6:c.*98C>T	ENSP00000405270.2:n.*98C>T
ENST00000443238.6:c.129C>T	ENSP00000409798.2:p.His43=
ENST00000444394.6:c.276C>T	ENSP00000411911.2:p.His92=
ENST00000444573.2:c.495C>T	ENSP00000392603.2:p.His165=
ENST00000451799.2:c.495C>T	ENSP00000416316.2:p.His165=
ENST00000469597.2:c.*299C>T	ENSP00000498417.1:n.*299C>T
ENST00000488080.6:n.294C>T
ENST00000650731.1:c.-25C>T	ENSP00000499146.1:n.-25C>T
ENST00000650734.1:c.*551C>T	ENSP00000498742.1:n.*551C>T
ENST00000650770.1:c.*565C>T	ENSP00000499036.1:n.*565C>T
ENST00000650938.1:c.175C>T
ENST00000651246.1:c.243C>T	ENSP00000498484.1:p.His81=
ENST00000651315.1:c.243C>T	ENSP00000498692.1:p.His81=
ENST00000651373.1:c.165C>T	ENSP00000499174.1:p.His55=
ENST00000651501.1:c.*98C>T	ENSP00000498894.1:n.*98C>T
ENST00000651580.1:c.*230C>T	ENSP00000498631.1:n.*230C>T
ENST00000651599.1:c.*135C>T	ENSP00000498535.1:n.*135C>T
ENST00000651717.1:c.253-12013C>T	ENSP00000499124.1:n.253-12013C>T
ENST00000651803.1:c.*643C>T	ENSP00000499007.1:n.*643C>T
ENST00000651971.1:c.*451C>T	ENSP00000499035.1:n.*451C>T
ENST00000652036.1:c.276C>T	ENSP00000499139.1:p.His92=
ENST00000652154.1:n.549C>T
ENST00000652208.1:c.495C>T	ENSP00000498475.1:p.His165=
ENST00000652434.1:c.612C>T	ENSP00000498549.1:p.His204=
ENST00000652437.1:n.794C>T
ENST00000652674.1:c.*135C>T	ENSP00000498599.1:n.*135C>T
ENST00000652734.1:n.548C>T
ENST00000652756.1:c.495C>T	ENSP00000498281.1:p.His165=
ENST00000652768.1:n.543C>T
ENST00000295497.11:c.276C>T	ENSP00000295497.7:p.His92=
ENST00000409089.6:c.-25C>T	ENSP00000386322.2:n.-25C>T
ENST00000409156.7:c.573C>T	ENSP00000386470.3:p.His191=
ENST00000409597.5:c.99C>T	ENSP00000386469.1:p.His33=
ENST00000409900.7:c.651C>T	ENSP00000386741.3:p.His217=
ENST00000413882.5:c.105C>T	ENSP00000410496.1:p.His35=
ENST00000425395.5:c.*202C>T	ENSP00000405270.1:n.*202C>T
ENST00000443238.5:c.129C>T	ENSP00000409798.1:p.His43=
ENST00000444394.5:c.-25C>T	ENSP00000411911.1:n.-25C>T
ENST00000444573.1:c.276C>T	ENSP00000392603.1:p.His92=
ENST00000485882.1:n.110C>T
ENST00000488080.5:n.502C>T
NM_001025201.3:c.573C>T	NP_001020372.2:p.His191=
NM_001206602.1:c.276C>T	NP_001193531.1:p.His92=
NM_001822.5:c.651C>T	NP_001813.1:p.His217=
NR_038133.1:n.517C>T
NM_001025201.4:c.573C>T	NP_001020372.2:p.His191=
NM_001206602.2:c.276C>T	NP_001193531.1:p.His92=
NM_001371513.1:c.651C>T	NP_001358442.1:p.His217=
NM_001371514.1:c.702C>T	NP_001358443.1:p.His234=
NM_001822.7:c.651C>T MANE Select	NP_001813.1:p.His217=
NR_038133.2:n.519C>T