Canonical Allele Identifier: CA349347924

Gene: CHN1

Linked Data

• ClinVar Variation Id: 1708248
• ClinVar RCV Id: RCV003236922
• gnomAD v4: 2-174824503-C-T
• MyVariant Identifiers: chr2:g.175689231C>T (hg19) ; chr2:g.174824503C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824503C>T , CM000664.2:g.174824503C>T	GRCh38
NC_000002.11:g.175689231C>T , CM000664.1:g.175689231C>T	GRCh37
NC_000002.10:g.175397477C>T	NCBI36
NG_012642.1:g.185940G>A
NG_012642.2:g.185940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.268G>A	ENSP00000295497.7:p.Gly90Arg
ENST00000444394.7:c.268G>A	ENSP00000411911.2:p.Gly90Arg
ENST00000295497.12:c.268G>A	ENSP00000295497.7:p.Gly90Arg
ENST00000409089.7:c.-33G>A	ENSP00000386322.3:n.-33G>A
ENST00000409900.9:c.643G>A MANE Select	ENSP00000386741.4:p.Gly215Arg
ENST00000413882.6:c.97G>A	ENSP00000410496.2:p.Gly33Arg
ENST00000425395.6:c.*90G>A	ENSP00000405270.2:n.*90G>A
ENST00000443238.6:c.121G>A	ENSP00000409798.2:p.Gly41Arg
ENST00000444394.6:c.268G>A	ENSP00000411911.2:p.Gly90Arg
ENST00000444573.2:c.487G>A	ENSP00000392603.2:p.Gly163Arg
ENST00000451799.2:c.487G>A	ENSP00000416316.2:p.Gly163Arg
ENST00000469597.2:c.*291G>A	ENSP00000498417.1:n.*291G>A
ENST00000488080.6:n.286G>A
ENST00000650731.1:c.-33G>A	ENSP00000499146.1:n.-33G>A
ENST00000650734.1:c.*543G>A	ENSP00000498742.1:n.*543G>A
ENST00000650770.1:c.*557G>A	ENSP00000499036.1:n.*557G>A
ENST00000650938.1:c.167G>A
ENST00000651246.1:c.235G>A	ENSP00000498484.1:p.Gly79Arg
ENST00000651315.1:c.235G>A	ENSP00000498692.1:p.Gly79Arg
ENST00000651373.1:c.157G>A	ENSP00000499174.1:p.Gly53Arg
ENST00000651501.1:c.*90G>A	ENSP00000498894.1:n.*90G>A
ENST00000651580.1:c.*222G>A	ENSP00000498631.1:n.*222G>A
ENST00000651599.1:c.*127G>A	ENSP00000498535.1:n.*127G>A
ENST00000651717.1:c.253-12021G>A	ENSP00000499124.1:n.253-12021G>A
ENST00000651803.1:c.*635G>A	ENSP00000499007.1:n.*635G>A
ENST00000651971.1:c.*443G>A	ENSP00000499035.1:n.*443G>A
ENST00000652036.1:c.268G>A	ENSP00000499139.1:p.Gly90Arg
ENST00000652154.1:n.541G>A
ENST00000652208.1:c.487G>A	ENSP00000498475.1:p.Gly163Arg
ENST00000652434.1:c.604G>A	ENSP00000498549.1:p.Gly202Arg
ENST00000652437.1:n.786G>A
ENST00000652674.1:c.*127G>A	ENSP00000498599.1:n.*127G>A
ENST00000652734.1:n.540G>A
ENST00000652756.1:c.487G>A	ENSP00000498281.1:p.Gly163Arg
ENST00000652768.1:n.535G>A
ENST00000295497.11:c.268G>A	ENSP00000295497.7:p.Gly90Arg
ENST00000409089.6:c.-33G>A	ENSP00000386322.2:n.-33G>A
ENST00000409156.7:c.565G>A	ENSP00000386470.3:p.Gly189Arg
ENST00000409597.5:c.91G>A	ENSP00000386469.1:p.Gly31Arg
ENST00000409900.7:c.643G>A	ENSP00000386741.3:p.Gly215Arg
ENST00000413882.5:c.97G>A	ENSP00000410496.1:p.Gly33Arg
ENST00000425395.5:c.*194G>A	ENSP00000405270.1:n.*194G>A
ENST00000443238.5:c.121G>A	ENSP00000409798.1:p.Gly41Arg
ENST00000444394.5:c.-33G>A	ENSP00000411911.1:n.-33G>A
ENST00000444573.1:c.268G>A	ENSP00000392603.1:p.Gly90Arg
ENST00000485882.1:n.102G>A
ENST00000488080.5:n.494G>A
NM_001025201.3:c.565G>A	NP_001020372.2:p.Gly189Arg
NM_001206602.1:c.268G>A	NP_001193531.1:p.Gly90Arg
NM_001822.5:c.643G>A	NP_001813.1:p.Gly215Arg
NR_038133.1:n.509G>A
NM_001025201.4:c.565G>A	NP_001020372.2:p.Gly189Arg
NM_001206602.2:c.268G>A	NP_001193531.1:p.Gly90Arg
NM_001371513.1:c.643G>A	NP_001358442.1:p.Gly215Arg
NM_001371514.1:c.694G>A	NP_001358443.1:p.Gly232Arg
NM_001822.7:c.643G>A MANE Select	NP_001813.1:p.Gly215Arg
NR_038133.2:n.511G>A