Canonical Allele Identifier: CA10613080
Gene: CHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 332472
ClinVar RCV Id: RCV000361160
dbSNP Id: rs886055155

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.175004986G>A , CM000664.2:g.175004986G>A GRCh38
NC_000002.11:g.175869714G>A , CM000664.1:g.175869714G>A GRCh37
NC_000002.10:g.175577960G>A NCBI36
NG_012642.1:g.5457C>T
NG_012642.2:g.5457C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409900.9:c.-74C>T MANE Select ENSP00000386741.4:n.-74C>T
ENST00000425395.6:c.-142C>T ENSP00000405270.2:n.-142C>T
ENST00000444573.2:c.-138+220C>T ENSP00000392603.2:n.-138+220C>T
ENST00000451799.2:c.-322C>T ENSP00000416316.2:n.-322C>T
ENST00000469597.2:c.-74C>T ENSP00000498417.1:n.-74C>T
ENST00000650734.1:c.-74C>T ENSP00000498742.1:n.-74C>T
ENST00000650770.1:c.-74C>T ENSP00000499036.1:n.-74C>T
ENST00000651501.1:c.-138+220C>T ENSP00000498894.1:n.-138+220C>T
ENST00000651599.1:c.-103C>T ENSP00000498535.1:n.-103C>T
ENST00000651803.1:c.-74C>T ENSP00000499007.1:n.-74C>T
ENST00000652157.1:n.159C>T
ENST00000652208.1:c.-325C>T ENSP00000498475.1:n.-325C>T
ENST00000652434.1:c.-391C>T ENSP00000498549.1:n.-391C>T
ENST00000409156.7:c.-74C>T ENSP00000386470.3:n.-74C>T
ENST00000409900.7:c.-74C>T ENSP00000386741.3:n.-74C>T
ENST00000425395.5:c.-74C>T ENSP00000405270.1:n.-74C>T
ENST00000451799.1:c.-74C>T ENSP00000416316.1:n.-74C>T
ENST00000469597.1:n.234C>T
ENST00000488080.5:n.159+220C>T
NM_001025201.3:c.-74C>T NP_001020372.2:n.-74C>T
NM_001822.5:c.-74C>T NP_001813.1:n.-74C>T
NR_038133.1:n.174+220C>T
NM_001025201.4:c.-74C>T NP_001020372.2:n.-74C>T
NM_001371513.1:c.-74C>T NP_001358442.1:n.-74C>T
NM_001371514.1:c.-74C>T NP_001358443.1:n.-74C>T
NM_001822.7:c.-74C>T MANE Select NP_001813.1:n.-74C>T
NR_038133.2:n.176+220C>T