Canonical Allele Identifier: CA430022773

Gene: CHN1

Linked Data

• dbSNP Id: rs1457230788
• gnomAD v4: 2-174824501-C-A
• MyVariant Identifiers: chr2:g.175689229C>A (hg19) ; chr2:g.174824501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824501C>A , CM000664.2:g.174824501C>A	GRCh38
NC_000002.11:g.175689229C>A , CM000664.1:g.175689229C>A	GRCh37
NC_000002.10:g.175397475C>A	NCBI36
NG_012642.1:g.185942G>T
NG_012642.2:g.185942G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.270G>T	ENSP00000295497.7:p.Gly90=
ENST00000444394.7:c.270G>T	ENSP00000411911.2:p.Gly90=
ENST00000295497.12:c.270G>T	ENSP00000295497.7:p.Gly90=
ENST00000409089.7:c.-31G>T	ENSP00000386322.3:n.-31G>T
ENST00000409900.9:c.645G>T MANE Select	ENSP00000386741.4:p.Gly215=
ENST00000413882.6:c.99G>T	ENSP00000410496.2:p.Gly33=
ENST00000425395.6:c.*92G>T	ENSP00000405270.2:n.*92G>T
ENST00000443238.6:c.123G>T	ENSP00000409798.2:p.Gly41=
ENST00000444394.6:c.270G>T	ENSP00000411911.2:p.Gly90=
ENST00000444573.2:c.489G>T	ENSP00000392603.2:p.Gly163=
ENST00000451799.2:c.489G>T	ENSP00000416316.2:p.Gly163=
ENST00000469597.2:c.*293G>T	ENSP00000498417.1:n.*293G>T
ENST00000488080.6:n.288G>T
ENST00000650731.1:c.-31G>T	ENSP00000499146.1:n.-31G>T
ENST00000650734.1:c.*545G>T	ENSP00000498742.1:n.*545G>T
ENST00000650770.1:c.*559G>T	ENSP00000499036.1:n.*559G>T
ENST00000650938.1:c.169G>T
ENST00000651246.1:c.237G>T	ENSP00000498484.1:p.Gly79=
ENST00000651315.1:c.237G>T	ENSP00000498692.1:p.Gly79=
ENST00000651373.1:c.159G>T	ENSP00000499174.1:p.Gly53=
ENST00000651501.1:c.*92G>T	ENSP00000498894.1:n.*92G>T
ENST00000651580.1:c.*224G>T	ENSP00000498631.1:n.*224G>T
ENST00000651599.1:c.*129G>T	ENSP00000498535.1:n.*129G>T
ENST00000651717.1:c.253-12019G>T	ENSP00000499124.1:n.253-12019G>T
ENST00000651803.1:c.*637G>T	ENSP00000499007.1:n.*637G>T
ENST00000651971.1:c.*445G>T	ENSP00000499035.1:n.*445G>T
ENST00000652036.1:c.270G>T	ENSP00000499139.1:p.Gly90=
ENST00000652154.1:n.543G>T
ENST00000652208.1:c.489G>T	ENSP00000498475.1:p.Gly163=
ENST00000652434.1:c.606G>T	ENSP00000498549.1:p.Gly202=
ENST00000652437.1:n.788G>T
ENST00000652674.1:c.*129G>T	ENSP00000498599.1:n.*129G>T
ENST00000652734.1:n.542G>T
ENST00000652756.1:c.489G>T	ENSP00000498281.1:p.Gly163=
ENST00000652768.1:n.537G>T
ENST00000295497.11:c.270G>T	ENSP00000295497.7:p.Gly90=
ENST00000409089.6:c.-31G>T	ENSP00000386322.2:n.-31G>T
ENST00000409156.7:c.567G>T	ENSP00000386470.3:p.Gly189=
ENST00000409597.5:c.93G>T	ENSP00000386469.1:p.Gly31=
ENST00000409900.7:c.645G>T	ENSP00000386741.3:p.Gly215=
ENST00000413882.5:c.99G>T	ENSP00000410496.1:p.Gly33=
ENST00000425395.5:c.*196G>T	ENSP00000405270.1:n.*196G>T
ENST00000443238.5:c.123G>T	ENSP00000409798.1:p.Gly41=
ENST00000444394.5:c.-31G>T	ENSP00000411911.1:n.-31G>T
ENST00000444573.1:c.270G>T	ENSP00000392603.1:p.Gly90=
ENST00000485882.1:n.104G>T
ENST00000488080.5:n.496G>T
NM_001025201.3:c.567G>T	NP_001020372.2:p.Gly189=
NM_001206602.1:c.270G>T	NP_001193531.1:p.Gly90=
NM_001822.5:c.645G>T	NP_001813.1:p.Gly215=
NR_038133.1:n.511G>T
NM_001025201.4:c.567G>T	NP_001020372.2:p.Gly189=
NM_001206602.2:c.270G>T	NP_001193531.1:p.Gly90=
NM_001371513.1:c.645G>T	NP_001358442.1:p.Gly215=
NM_001371514.1:c.696G>T	NP_001358443.1:p.Gly232=
NM_001822.7:c.645G>T MANE Select	NP_001813.1:p.Gly215=
NR_038133.2:n.513G>T