Canonical Allele Identifier: CA258036
Gene: CHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17552
ClinVar RCV Id: RCV000019107
dbSNP Id: rs121912794
MyVariant Identifiers: chr2:g.175742690A>G (hg19) chr2:g.174877962A>G (hg38)
PubMed: PMID:17197532 PMID:18653847
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174877962A>G , CM000664.2:g.174877962A>G GRCh38
NC_000002.11:g.175742690A>G , CM000664.1:g.175742690A>G GRCh37
NC_000002.10:g.175450936A>G NCBI36
NG_012642.1:g.132481T>C
NG_012642.2:g.132481T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000409900.9:c.427T>C MANE Select ENSP00000386741.4:p.Tyr143His
ENST00000425395.6:c.105-31005T>C ENSP00000405270.2:n.105-31005T>C
ENST00000444573.2:c.271T>C ENSP00000392603.2:p.Tyr91His
ENST00000451799.2:c.271T>C ENSP00000416316.2:p.Tyr91His
ENST00000469597.2:c.*75T>C ENSP00000498417.1:n.*75T>C
ENST00000488080.6:n.115-2097T>C
ENST00000650734.1:c.*327T>C ENSP00000498742.1:n.*327T>C
ENST00000650770.1:c.*341T>C ENSP00000499036.1:n.*341T>C
ENST00000651063.1:n.478T>C
ENST00000651246.1:c.19T>C ENSP00000498484.1:p.Tyr7His
ENST00000651315.1:c.19T>C ENSP00000498692.1:p.Tyr7His
ENST00000651373.1:c.19T>C ENSP00000499174.1:p.Tyr7His
ENST00000651501.1:c.105-31005T>C ENSP00000498894.1:n.105-31005T>C
ENST00000651580.1:c.271T>C ENSP00000498631.1:p.Tyr91His
ENST00000651599.1:c.271T>C ENSP00000498535.1:p.Tyr91His
ENST00000651803.1:c.*341T>C ENSP00000499007.1:n.*341T>C
ENST00000651971.1:c.*227T>C ENSP00000499035.1:n.*227T>C
ENST00000652154.1:n.403T>C
ENST00000652208.1:c.271T>C ENSP00000498475.1:p.Tyr91His
ENST00000652434.1:c.388T>C ENSP00000498549.1:p.Tyr130His
ENST00000652437.1:n.570T>C
ENST00000652674.1:c.19T>C ENSP00000498599.1:p.Tyr7His
ENST00000652734.1:n.324T>C
ENST00000652756.1:c.271T>C ENSP00000498281.1:p.Tyr91His
ENST00000652768.1:n.319T>C
ENST00000409156.7:c.427T>C ENSP00000386470.3:p.Tyr143His
ENST00000409900.7:c.427T>C ENSP00000386741.3:p.Tyr143His
ENST00000425395.5:c.*101-31005T>C ENSP00000405270.1:n.*101-31005T>C
ENST00000469597.1:n.532T>C
ENST00000488080.5:n.401-31005T>C
ENST00000490654.1:n.402T>C
NM_001025201.3:c.427T>C NP_001020372.2:p.Tyr143His
NM_001822.5:c.427T>C NP_001813.1:p.Tyr143His
NR_038133.1:n.416-31005T>C
NM_001025201.4:c.427T>C NP_001020372.2:p.Tyr143His
NM_001371513.1:c.427T>C NP_001358442.1:p.Tyr143His
NM_001371514.1:c.478T>C NP_001358443.1:p.Tyr160His
NM_001822.7:c.427T>C MANE Select NP_001813.1:p.Tyr143His
NR_038133.2:n.418-31005T>C
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