Canonical Allele Identifier: CA349689576

Gene: CHN1

Linked Data

• gnomAD v4: 2-174877923-C-T
• MyVariant Identifiers: chr2:g.175742651C>T (hg19) ; chr2:g.174877923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174877923C>T , CM000664.2:g.174877923C>T	GRCh38
NC_000002.11:g.175742651C>T , CM000664.1:g.175742651C>T	GRCh37
NC_000002.10:g.175450897C>T	NCBI36
NG_012642.1:g.132520G>A
NG_012642.2:g.132520G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409900.9:c.466G>A MANE Select	ENSP00000386741.4:p.Ala156Thr
ENST00000425395.6:c.105-30966G>A	ENSP00000405270.2:n.105-30966G>A
ENST00000444573.2:c.310G>A	ENSP00000392603.2:p.Ala104Thr
ENST00000451799.2:c.310G>A	ENSP00000416316.2:p.Ala104Thr
ENST00000469597.2:c.*114G>A	ENSP00000498417.1:n.*114G>A
ENST00000488080.6:n.115-2058G>A
ENST00000650734.1:c.*366G>A	ENSP00000498742.1:n.*366G>A
ENST00000650770.1:c.*380G>A	ENSP00000499036.1:n.*380G>A
ENST00000651063.1:n.517G>A
ENST00000651246.1:c.58G>A	ENSP00000498484.1:p.Ala20Thr
ENST00000651315.1:c.58G>A	ENSP00000498692.1:p.Ala20Thr
ENST00000651373.1:c.58G>A	ENSP00000499174.1:p.Ala20Thr
ENST00000651501.1:c.105-30966G>A	ENSP00000498894.1:n.105-30966G>A
ENST00000651580.1:c.310G>A	ENSP00000498631.1:p.Ala104Thr
ENST00000651599.1:c.310G>A	ENSP00000498535.1:p.Ala104Thr
ENST00000651803.1:c.*380G>A	ENSP00000499007.1:n.*380G>A
ENST00000651971.1:c.*266G>A	ENSP00000499035.1:n.*266G>A
ENST00000652154.1:n.442G>A
ENST00000652208.1:c.310G>A	ENSP00000498475.1:p.Ala104Thr
ENST00000652434.1:c.427G>A	ENSP00000498549.1:p.Ala143Thr
ENST00000652437.1:n.609G>A
ENST00000652674.1:c.58G>A	ENSP00000498599.1:p.Ala20Thr
ENST00000652734.1:n.363G>A
ENST00000652756.1:c.310G>A	ENSP00000498281.1:p.Ala104Thr
ENST00000652768.1:n.358G>A
ENST00000409156.7:c.466G>A	ENSP00000386470.3:p.Ala156Thr
ENST00000409900.7:c.466G>A	ENSP00000386741.3:p.Ala156Thr
ENST00000425395.5:c.*101-30966G>A	ENSP00000405270.1:n.*101-30966G>A
ENST00000469597.1:n.571G>A
ENST00000481174.1:n.19G>A
ENST00000488080.5:n.401-30966G>A
ENST00000490654.1:n.441G>A
NM_001025201.3:c.466G>A	NP_001020372.2:p.Ala156Thr
NM_001822.5:c.466G>A	NP_001813.1:p.Ala156Thr
NR_038133.1:n.416-30966G>A
NM_001025201.4:c.466G>A	NP_001020372.2:p.Ala156Thr
NM_001371513.1:c.466G>A	NP_001358442.1:p.Ala156Thr
NM_001371514.1:c.517G>A	NP_001358443.1:p.Ala173Thr
NM_001822.7:c.466G>A MANE Select	NP_001813.1:p.Ala156Thr
NR_038133.2:n.418-30966G>A