Canonical Allele Identifier: CA349347662

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824437-C-T
• MyVariant Identifiers: chr2:g.175689165C>T (hg19) ; chr2:g.174824437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824437C>T , CM000664.2:g.174824437C>T	GRCh38
NC_000002.11:g.175689165C>T , CM000664.1:g.175689165C>T	GRCh37
NC_000002.10:g.175397411C>T	NCBI36
NG_012642.1:g.186006G>A
NG_012642.2:g.186006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.334G>A	ENSP00000295497.7:p.Ala112Thr
ENST00000444394.7:c.334G>A	ENSP00000411911.2:p.Ala112Thr
ENST00000295497.12:c.334G>A	ENSP00000295497.7:p.Ala112Thr
ENST00000409089.7:c.34G>A	ENSP00000386322.3:p.Ala12Thr
ENST00000409900.9:c.709G>A MANE Select	ENSP00000386741.4:p.Ala237Thr
ENST00000413882.6:c.163G>A	ENSP00000410496.2:p.Ala55Thr
ENST00000425395.6:c.*156G>A	ENSP00000405270.2:n.*156G>A
ENST00000443238.6:c.187G>A	ENSP00000409798.2:p.Ala63Thr
ENST00000444394.6:c.334G>A	ENSP00000411911.2:p.Ala112Thr
ENST00000444573.2:c.553G>A	ENSP00000392603.2:p.Ala185Thr
ENST00000488080.6:n.352G>A
ENST00000650731.1:c.34G>A	ENSP00000499146.1:p.Ala12Thr
ENST00000650938.1:c.233G>A
ENST00000651246.1:c.301G>A	ENSP00000498484.1:p.Ala101Thr
ENST00000651373.1:c.223G>A	ENSP00000499174.1:p.Ala75Thr
ENST00000651501.1:c.*156G>A	ENSP00000498894.1:n.*156G>A
ENST00000651717.1:c.253-11955G>A	ENSP00000499124.1:n.253-11955G>A
ENST00000652036.1:c.334G>A	ENSP00000499139.1:p.Ala112Thr
ENST00000652154.1:n.607G>A
ENST00000295497.11:c.334G>A	ENSP00000295497.7:p.Ala112Thr
ENST00000409089.6:c.34G>A	ENSP00000386322.2:p.Ala12Thr
ENST00000409156.7:c.631G>A	ENSP00000386470.3:p.Ala211Thr
ENST00000409597.5:c.157G>A	ENSP00000386469.1:p.Ala53Thr
ENST00000409900.7:c.709G>A	ENSP00000386741.3:p.Ala237Thr
ENST00000413882.5:c.163G>A	ENSP00000410496.1:p.Ala55Thr
ENST00000425395.5:c.*260G>A	ENSP00000405270.1:n.*260G>A
ENST00000443238.5:c.187G>A	ENSP00000409798.1:p.Ala63Thr
ENST00000444394.5:c.34G>A	ENSP00000411911.1:p.Ala12Thr
ENST00000444573.1:c.334G>A	ENSP00000392603.1:p.Ala112Thr
ENST00000485882.1:n.168G>A
ENST00000488080.5:n.560G>A
NM_001025201.3:c.631G>A	NP_001020372.2:p.Ala211Thr
NM_001206602.1:c.334G>A	NP_001193531.1:p.Ala112Thr
NM_001822.5:c.709G>A	NP_001813.1:p.Ala237Thr
NR_038133.1:n.575G>A
NM_001025201.4:c.631G>A	NP_001020372.2:p.Ala211Thr
NM_001206602.2:c.334G>A	NP_001193531.1:p.Ala112Thr
NM_001371513.1:c.709G>A	NP_001358442.1:p.Ala237Thr
NM_001371514.1:c.760G>A	NP_001358443.1:p.Ala254Thr
NM_001822.7:c.709G>A MANE Select	NP_001813.1:p.Ala237Thr
NR_038133.2:n.577G>A