Canonical Allele Identifier: CA1975030

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174877954G>A , CM000664.2:g.174877954G>A	GRCh38
NC_000002.11:g.175742682G>A , CM000664.1:g.175742682G>A	GRCh37
NC_000002.10:g.175450928G>A	NCBI36
NG_012642.1:g.132489C>T
NG_012642.2:g.132489C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001822.7:c.435C>T MANE Select	NP_001813.1:p.His145=
ENST00000409900.9:c.435C>T MANE Select	ENSP00000386741.4:p.His145=
NM_001025201.3:c.435C>T	NP_001020372.2:p.His145=
NM_001025201.4:c.435C>T	NP_001020372.2:p.His145=
NM_001371513.1:c.435C>T	NP_001358442.1:p.His145=
NM_001371514.1:c.486C>T	NP_001358443.1:p.His162=
NM_001822.5:c.435C>T	NP_001813.1:p.His145=
NR_038133.1:n.416-30997C>T
NR_038133.2:n.418-30997C>T
ENST00000409156.7:c.435C>T	ENSP00000386470.3:p.His145=
ENST00000409900.7:c.435C>T	ENSP00000386741.3:p.His145=
ENST00000425395.5:c.*101-30997C>T	ENSP00000405270.1:n.*101-30997C>T
ENST00000425395.6:c.105-30997C>T	ENSP00000405270.2:n.105-30997C>T
ENST00000444573.2:c.279C>T	ENSP00000392603.2:p.His93=
ENST00000451799.2:c.279C>T	ENSP00000416316.2:p.His93=
ENST00000469597.1:n.540C>T
ENST00000469597.2:c.*83C>T	ENSP00000498417.1:n.*83C>T
ENST00000488080.5:n.401-30997C>T
ENST00000488080.6:n.115-2089C>T
ENST00000490654.1:n.410C>T
ENST00000650734.1:c.*335C>T	ENSP00000498742.1:n.*335C>T
ENST00000650770.1:c.*349C>T	ENSP00000499036.1:n.*349C>T
ENST00000651063.1:n.486C>T
ENST00000651246.1:c.27C>T	ENSP00000498484.1:p.His9=
ENST00000651315.1:c.27C>T	ENSP00000498692.1:p.His9=
ENST00000651373.1:c.27C>T	ENSP00000499174.1:p.His9=
ENST00000651501.1:c.105-30997C>T	ENSP00000498894.1:n.105-30997C>T
ENST00000651580.1:c.279C>T	ENSP00000498631.1:p.His93=
ENST00000651599.1:c.279C>T	ENSP00000498535.1:p.His93=
ENST00000651803.1:c.*349C>T	ENSP00000499007.1:n.*349C>T
ENST00000651971.1:c.*235C>T	ENSP00000499035.1:n.*235C>T
ENST00000652154.1:n.411C>T
ENST00000652208.1:c.279C>T	ENSP00000498475.1:p.His93=
ENST00000652434.1:c.396C>T	ENSP00000498549.1:p.His132=
ENST00000652437.1:n.578C>T
ENST00000652674.1:c.27C>T	ENSP00000498599.1:p.His9=
ENST00000652734.1:n.332C>T
ENST00000652756.1:c.279C>T	ENSP00000498281.1:p.His93=
ENST00000652768.1:n.327C>T