Canonical Allele Identifier: CA2662021885

Gene: CHN1

Linked Data

• gnomAD v4: 2-174799892-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799892T>C , CM000664.2:g.174799892T>C	GRCh38
NC_000002.11:g.175664620T>C , CM000664.1:g.175664620T>C	GRCh37
NC_000002.10:g.175372866T>C	NCBI36
NG_012642.1:g.210551A>G
NG_012642.2:g.210551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*224A>G	ENSP00000295497.7:n.*224A>G
ENST00000295497.12:c.*224A>G	ENSP00000295497.7:n.*224A>G
ENST00000409900.9:c.*224A>G MANE Select	ENSP00000386741.4:n.*224A>G
ENST00000413882.6:c.*224A>G	ENSP00000410496.2:n.*224A>G
ENST00000443238.6:c.*224A>G	ENSP00000409798.2:n.*224A>G
ENST00000488080.6:n.1247A>G
ENST00000650731.1:c.*224A>G	ENSP00000499146.1:n.*224A>G
ENST00000650938.1:c.990A>G
ENST00000651246.1:c.*224A>G	ENSP00000498484.1:n.*224A>G
ENST00000651501.1:c.*1051A>G	ENSP00000498894.1:n.*1051A>G
ENST00000651717.1:c.*880A>G	ENSP00000499124.1:n.*880A>G
ENST00000652036.1:c.*224A>G	ENSP00000499139.1:n.*224A>G
ENST00000295497.11:c.*224A>G	ENSP00000295497.7:n.*224A>G
ENST00000409597.5:c.*224A>G	ENSP00000386469.1:n.*224A>G
ENST00000409900.7:c.*224A>G	ENSP00000386741.3:n.*224A>G
ENST00000488080.5:n.1455A>G
NM_001025201.3:c.*224A>G	NP_001020372.2:n.*224A>G
NM_001206602.1:c.*224A>G	NP_001193531.1:n.*224A>G
NM_001822.5:c.*224A>G	NP_001813.1:n.*224A>G
NR_038133.1:n.1470A>G
NM_001025201.4:c.*224A>G	NP_001020372.2:n.*224A>G
NM_001206602.2:c.*224A>G	NP_001193531.1:n.*224A>G
NM_001371513.1:c.*224A>G	NP_001358442.1:n.*224A>G
NM_001371514.1:c.*224A>G	NP_001358443.1:n.*224A>G
NM_001822.7:c.*224A>G MANE Select	NP_001813.1:n.*224A>G
NR_038133.2:n.1472A>G