Canonical Allele Identifier: CA258034
Gene: CHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17550
ClinVar RCV Id: RCV000019105
dbSNP Id: rs121912792
MyVariant Identifiers: chr2:g.175809670T>A (hg19) chr2:g.174944942T>A (hg38)
PubMed: PMID:17197532 PMID:18653847
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174944942T>A , CM000664.2:g.174944942T>A GRCh38
NC_000002.11:g.175809670T>A , CM000664.1:g.175809670T>A GRCh37
NC_000002.10:g.175517916T>A NCBI36
NG_012642.1:g.65501A>T
NG_012642.2:g.65501A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409900.9:c.60A>T MANE Select ENSP00000386741.4:p.Leu20Phe
ENST00000425395.6:c.-11+7222A>T ENSP00000405270.2:n.-11+7222A>T
ENST00000444573.2:c.-97A>T ENSP00000392603.2:n.-97A>T
ENST00000451799.2:c.-97A>T ENSP00000416316.2:n.-97A>T
ENST00000469597.2:c.58+7222A>T ENSP00000498417.1:n.58+7222A>T
ENST00000650734.1:c.60A>T ENSP00000498742.1:p.Leu20Phe
ENST00000650770.1:c.60A>T ENSP00000499036.1:p.Leu20Phe
ENST00000651063.1:n.111A>T
ENST00000651501.1:c.-97A>T ENSP00000498894.1:n.-97A>T
ENST00000651580.1:c.-97A>T ENSP00000498631.1:n.-97A>T
ENST00000651599.1:c.-10-29771A>T ENSP00000498535.1:n.-10-29771A>T
ENST00000651803.1:c.60A>T ENSP00000499007.1:p.Leu20Phe
ENST00000651971.1:c.58+7222A>T ENSP00000499035.1:n.58+7222A>T
ENST00000652157.1:n.292A>T
ENST00000652208.1:c.-97A>T ENSP00000498475.1:n.-97A>T
ENST00000652434.1:c.-166A>T ENSP00000498549.1:n.-166A>T
ENST00000652437.1:n.203A>T
ENST00000409156.7:c.60A>T ENSP00000386470.3:p.Leu20Phe
ENST00000409900.7:c.60A>T ENSP00000386741.3:p.Leu20Phe
ENST00000425395.5:c.58+7222A>T ENSP00000405270.1:n.58+7222A>T
ENST00000451799.1:c.*83A>T ENSP00000416316.1:n.*83A>T
ENST00000469597.1:n.365+7222A>T
ENST00000488080.5:n.200A>T
NM_001025201.3:c.60A>T NP_001020372.2:p.Leu20Phe
NM_001822.5:c.60A>T NP_001813.1:p.Leu20Phe
NR_038133.1:n.215A>T
NM_001025201.4:c.60A>T NP_001020372.2:p.Leu20Phe
NM_001371513.1:c.60A>T NP_001358442.1:p.Leu20Phe
NM_001371514.1:c.58+7222A>T NP_001358443.1:n.58+7222A>T
NM_001822.7:c.60A>T MANE Select NP_001813.1:p.Leu20Phe
NR_038133.2:n.217A>T
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