Canonical Allele Identifier: CA1974769
Gene: CHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 332461
ClinVar RCV Id: RCV000374291
dbSNP Id: rs143852940

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174800088A>G , CM000664.2:g.174800088A>G GRCh38
NC_000002.11:g.175664816A>G , CM000664.1:g.175664816A>G GRCh37
NC_000002.10:g.175373062A>G NCBI36
NG_012642.1:g.210355T>C
NG_012642.2:g.210355T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295497.13:c.*28T>C ENSP00000295497.7:n.*28T>C
ENST00000295497.12:c.*28T>C ENSP00000295497.7:n.*28T>C
ENST00000409900.9:c.*28T>C MANE Select ENSP00000386741.4:n.*28T>C
ENST00000413882.6:c.*28T>C ENSP00000410496.2:n.*28T>C
ENST00000443238.6:c.*28T>C ENSP00000409798.2:n.*28T>C
ENST00000488080.6:n.1051T>C
ENST00000650731.1:c.*28T>C ENSP00000499146.1:n.*28T>C
ENST00000650938.1:c.794T>C
ENST00000651246.1:c.*28T>C ENSP00000498484.1:n.*28T>C
ENST00000651501.1:c.*855T>C ENSP00000498894.1:n.*855T>C
ENST00000651717.1:c.*684T>C ENSP00000499124.1:n.*684T>C
ENST00000652036.1:c.*28T>C ENSP00000499139.1:n.*28T>C
ENST00000295497.11:c.*28T>C ENSP00000295497.7:n.*28T>C
ENST00000409156.7:c.*28T>C ENSP00000386470.3:n.*28T>C
ENST00000409597.5:c.*28T>C ENSP00000386469.1:n.*28T>C
ENST00000409900.7:c.*28T>C ENSP00000386741.3:n.*28T>C
ENST00000488080.5:n.1259T>C
ENST00000492964.1:n.551T>C
NM_001025201.3:c.*28T>C NP_001020372.2:n.*28T>C
NM_001206602.1:c.*28T>C NP_001193531.1:n.*28T>C
NM_001822.5:c.*28T>C NP_001813.1:n.*28T>C
NR_038133.1:n.1274T>C
NM_001025201.4:c.*28T>C NP_001020372.2:n.*28T>C
NM_001206602.2:c.*28T>C NP_001193531.1:n.*28T>C
NM_001371513.1:c.*28T>C NP_001358442.1:n.*28T>C
NM_001371514.1:c.*28T>C NP_001358443.1:n.*28T>C
NM_001822.7:c.*28T>C MANE Select NP_001813.1:n.*28T>C
NR_038133.2:n.1276T>C