Canonical Allele Identifier: CA430300592

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175742745G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174878017G>A , CM000664.2:g.174878017G>A	GRCh38
NC_000002.11:g.175742745G>A , CM000664.1:g.175742745G>A	GRCh37
NC_000002.10:g.175450991G>A	NCBI36
NG_012642.1:g.132426C>T
NG_012642.2:g.132426C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409900.9:c.372C>T MANE Select	ENSP00000386741.4:p.Leu124=
ENST00000425395.6:c.105-31060C>T	ENSP00000405270.2:n.105-31060C>T
ENST00000444573.2:c.216C>T	ENSP00000392603.2:p.Leu72=
ENST00000451799.2:c.216C>T	ENSP00000416316.2:p.Leu72=
ENST00000469597.2:c.*20C>T	ENSP00000498417.1:n.*20C>T
ENST00000488080.6:n.115-2152C>T
ENST00000650734.1:c.*272C>T	ENSP00000498742.1:n.*272C>T
ENST00000650770.1:c.*286C>T	ENSP00000499036.1:n.*286C>T
ENST00000651063.1:n.423C>T
ENST00000651246.1:c.-37C>T	ENSP00000498484.1:n.-37C>T
ENST00000651315.1:c.-37C>T	ENSP00000498692.1:n.-37C>T
ENST00000651373.1:c.-37C>T	ENSP00000499174.1:n.-37C>T
ENST00000651501.1:c.105-31060C>T	ENSP00000498894.1:n.105-31060C>T
ENST00000651580.1:c.216C>T	ENSP00000498631.1:p.Leu72=
ENST00000651599.1:c.216C>T	ENSP00000498535.1:p.Leu72=
ENST00000651803.1:c.*286C>T	ENSP00000499007.1:n.*286C>T
ENST00000651971.1:c.*172C>T	ENSP00000499035.1:n.*172C>T
ENST00000652154.1:n.348C>T
ENST00000652208.1:c.216C>T	ENSP00000498475.1:p.Leu72=
ENST00000652434.1:c.333C>T	ENSP00000498549.1:p.Leu111=
ENST00000652437.1:n.515C>T
ENST00000652674.1:c.-37C>T	ENSP00000498599.1:n.-37C>T
ENST00000652734.1:n.269C>T
ENST00000652756.1:c.216C>T	ENSP00000498281.1:p.Leu72=
ENST00000652768.1:n.264C>T
ENST00000409156.7:c.372C>T	ENSP00000386470.3:p.Leu124=
ENST00000409900.7:c.372C>T	ENSP00000386741.3:p.Leu124=
ENST00000425395.5:c.*101-31060C>T	ENSP00000405270.1:n.*101-31060C>T
ENST00000469597.1:n.477C>T
ENST00000488080.5:n.401-31060C>T
ENST00000490654.1:n.347C>T
NM_001025201.3:c.372C>T	NP_001020372.2:p.Leu124=
NM_001822.5:c.372C>T	NP_001813.1:p.Leu124=
NR_038133.1:n.416-31060C>T
NM_001025201.4:c.372C>T	NP_001020372.2:p.Leu124=
NM_001371513.1:c.372C>T	NP_001358442.1:p.Leu124=
NM_001371514.1:c.423C>T	NP_001358443.1:p.Leu141=
NM_001822.7:c.372C>T MANE Select	NP_001813.1:p.Leu124=
NR_038133.2:n.418-31060C>T