Canonical Allele Identifier: CA2662021973

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800072-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800072T>G , CM000664.2:g.174800072T>G	GRCh38
NC_000002.11:g.175664800T>G , CM000664.1:g.175664800T>G	GRCh37
NC_000002.10:g.175373046T>G	NCBI36
NG_012642.1:g.210371A>C
NG_012642.2:g.210371A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*44A>C	ENSP00000295497.7:n.*44A>C
ENST00000295497.12:c.*44A>C	ENSP00000295497.7:n.*44A>C
ENST00000409900.9:c.*44A>C MANE Select	ENSP00000386741.4:n.*44A>C
ENST00000413882.6:c.*44A>C	ENSP00000410496.2:n.*44A>C
ENST00000443238.6:c.*44A>C	ENSP00000409798.2:n.*44A>C
ENST00000488080.6:n.1067A>C
ENST00000650731.1:c.*44A>C	ENSP00000499146.1:n.*44A>C
ENST00000650938.1:c.810A>C
ENST00000651246.1:c.*44A>C	ENSP00000498484.1:n.*44A>C
ENST00000651501.1:c.*871A>C	ENSP00000498894.1:n.*871A>C
ENST00000651717.1:c.*700A>C	ENSP00000499124.1:n.*700A>C
ENST00000652036.1:c.*44A>C	ENSP00000499139.1:n.*44A>C
ENST00000295497.11:c.*44A>C	ENSP00000295497.7:n.*44A>C
ENST00000409156.7:c.*44A>C	ENSP00000386470.3:n.*44A>C
ENST00000409597.5:c.*44A>C	ENSP00000386469.1:n.*44A>C
ENST00000409900.7:c.*44A>C	ENSP00000386741.3:n.*44A>C
ENST00000488080.5:n.1275A>C
ENST00000492964.1:n.567A>C
NM_001025201.3:c.*44A>C	NP_001020372.2:n.*44A>C
NM_001206602.1:c.*44A>C	NP_001193531.1:n.*44A>C
NM_001822.5:c.*44A>C	NP_001813.1:n.*44A>C
NR_038133.1:n.1290A>C
NM_001025201.4:c.*44A>C	NP_001020372.2:n.*44A>C
NM_001206602.2:c.*44A>C	NP_001193531.1:n.*44A>C
NM_001371513.1:c.*44A>C	NP_001358442.1:n.*44A>C
NM_001371514.1:c.*44A>C	NP_001358443.1:n.*44A>C
NM_001822.7:c.*44A>C MANE Select	NP_001813.1:n.*44A>C
NR_038133.2:n.1292A>C