Canonical Allele Identifier: CA349347725

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824455-C-T
• MyVariant Identifiers: chr2:g.175689183C>T (hg19) ; chr2:g.174824455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824455C>T , CM000664.2:g.174824455C>T	GRCh38
NC_000002.11:g.175689183C>T , CM000664.1:g.175689183C>T	GRCh37
NC_000002.10:g.175397429C>T	NCBI36
NG_012642.1:g.185988G>A
NG_012642.2:g.185988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.316G>A	ENSP00000295497.7:p.Ala106Thr
ENST00000444394.7:c.316G>A	ENSP00000411911.2:p.Ala106Thr
ENST00000295497.12:c.316G>A	ENSP00000295497.7:p.Ala106Thr
ENST00000409089.7:c.16G>A	ENSP00000386322.3:p.Ala6Thr
ENST00000409900.9:c.691G>A MANE Select	ENSP00000386741.4:p.Ala231Thr
ENST00000413882.6:c.145G>A	ENSP00000410496.2:p.Ala49Thr
ENST00000425395.6:c.*138G>A	ENSP00000405270.2:n.*138G>A
ENST00000443238.6:c.169G>A	ENSP00000409798.2:p.Ala57Thr
ENST00000444394.6:c.316G>A	ENSP00000411911.2:p.Ala106Thr
ENST00000444573.2:c.535G>A	ENSP00000392603.2:p.Ala179Thr
ENST00000488080.6:n.334G>A
ENST00000650731.1:c.16G>A	ENSP00000499146.1:p.Ala6Thr
ENST00000650938.1:c.215G>A
ENST00000651246.1:c.283G>A	ENSP00000498484.1:p.Ala95Thr
ENST00000651373.1:c.205G>A	ENSP00000499174.1:p.Ala69Thr
ENST00000651501.1:c.*138G>A	ENSP00000498894.1:n.*138G>A
ENST00000651717.1:c.253-11973G>A	ENSP00000499124.1:n.253-11973G>A
ENST00000652036.1:c.316G>A	ENSP00000499139.1:p.Ala106Thr
ENST00000652154.1:n.589G>A
ENST00000295497.11:c.316G>A	ENSP00000295497.7:p.Ala106Thr
ENST00000409089.6:c.16G>A	ENSP00000386322.2:p.Ala6Thr
ENST00000409156.7:c.613G>A	ENSP00000386470.3:p.Ala205Thr
ENST00000409597.5:c.139G>A	ENSP00000386469.1:p.Ala47Thr
ENST00000409900.7:c.691G>A	ENSP00000386741.3:p.Ala231Thr
ENST00000413882.5:c.145G>A	ENSP00000410496.1:p.Ala49Thr
ENST00000425395.5:c.*242G>A	ENSP00000405270.1:n.*242G>A
ENST00000443238.5:c.169G>A	ENSP00000409798.1:p.Ala57Thr
ENST00000444394.5:c.16G>A	ENSP00000411911.1:p.Ala6Thr
ENST00000444573.1:c.316G>A	ENSP00000392603.1:p.Ala106Thr
ENST00000485882.1:n.150G>A
ENST00000488080.5:n.542G>A
NM_001025201.3:c.613G>A	NP_001020372.2:p.Ala205Thr
NM_001206602.1:c.316G>A	NP_001193531.1:p.Ala106Thr
NM_001822.5:c.691G>A	NP_001813.1:p.Ala231Thr
NR_038133.1:n.557G>A
NM_001025201.4:c.613G>A	NP_001020372.2:p.Ala205Thr
NM_001206602.2:c.316G>A	NP_001193531.1:p.Ala106Thr
NM_001371513.1:c.691G>A	NP_001358442.1:p.Ala231Thr
NM_001371514.1:c.742G>A	NP_001358443.1:p.Ala248Thr
NM_001822.7:c.691G>A MANE Select	NP_001813.1:p.Ala231Thr
NR_038133.2:n.559G>A