Canonical Allele Identifier: CA2662021912

Gene: CHN1

Linked Data

• gnomAD v4: 2-174799967-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799967C>A , CM000664.2:g.174799967C>A	GRCh38
NC_000002.11:g.175664695C>A , CM000664.1:g.175664695C>A	GRCh37
NC_000002.10:g.175372941C>A	NCBI36
NG_012642.1:g.210476G>T
NG_012642.2:g.210476G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*149G>T	ENSP00000295497.7:n.*149G>T
ENST00000295497.12:c.*149G>T	ENSP00000295497.7:n.*149G>T
ENST00000409900.9:c.*149G>T MANE Select	ENSP00000386741.4:n.*149G>T
ENST00000413882.6:c.*149G>T	ENSP00000410496.2:n.*149G>T
ENST00000443238.6:c.*149G>T	ENSP00000409798.2:n.*149G>T
ENST00000488080.6:n.1172G>T
ENST00000650731.1:c.*149G>T	ENSP00000499146.1:n.*149G>T
ENST00000650938.1:c.915G>T
ENST00000651246.1:c.*149G>T	ENSP00000498484.1:n.*149G>T
ENST00000651501.1:c.*976G>T	ENSP00000498894.1:n.*976G>T
ENST00000651717.1:c.*805G>T	ENSP00000499124.1:n.*805G>T
ENST00000652036.1:c.*149G>T	ENSP00000499139.1:n.*149G>T
ENST00000295497.11:c.*149G>T	ENSP00000295497.7:n.*149G>T
ENST00000409597.5:c.*149G>T	ENSP00000386469.1:n.*149G>T
ENST00000409900.7:c.*149G>T	ENSP00000386741.3:n.*149G>T
ENST00000488080.5:n.1380G>T
ENST00000492964.1:n.672G>T
NM_001025201.3:c.*149G>T	NP_001020372.2:n.*149G>T
NM_001206602.1:c.*149G>T	NP_001193531.1:n.*149G>T
NM_001822.5:c.*149G>T	NP_001813.1:n.*149G>T
NR_038133.1:n.1395G>T
NM_001025201.4:c.*149G>T	NP_001020372.2:n.*149G>T
NM_001206602.2:c.*149G>T	NP_001193531.1:n.*149G>T
NM_001371513.1:c.*149G>T	NP_001358442.1:n.*149G>T
NM_001371514.1:c.*149G>T	NP_001358443.1:n.*149G>T
NM_001822.7:c.*149G>T MANE Select	NP_001813.1:n.*149G>T
NR_038133.2:n.1397G>T