Canonical Allele Identifier: CA2577164038

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800293A>C , CM000664.2:g.174800293A>C	GRCh38
NC_000002.11:g.175665021A>C , CM000664.1:g.175665021A>C	GRCh37
NC_000002.10:g.175373267A>C	NCBI36
NG_012642.1:g.210150T>G
NG_012642.2:g.210150T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.834-6T>G	ENSP00000295497.7:n.834-6T>G
ENST00000444394.7:c.963-6T>G	ENSP00000411911.2:n.963-6T>G
ENST00000295497.12:c.834-6T>G	ENSP00000295497.7:n.834-6T>G
ENST00000409089.7:c.585-6T>G	ENSP00000386322.3:n.585-6T>G
ENST00000409900.9:c.1209-6T>G MANE Select	ENSP00000386741.4:n.1209-6T>G
ENST00000413882.6:c.663-6T>G	ENSP00000410496.2:n.663-6T>G
ENST00000443238.6:c.687-6T>G	ENSP00000409798.2:n.687-6T>G
ENST00000444394.6:c.963-6T>G	ENSP00000411911.2:n.963-6T>G
ENST00000488080.6:n.852-6T>G
ENST00000650731.1:c.534-6T>G	ENSP00000499146.1:n.534-6T>G
ENST00000650938.1:c.595-6T>G
ENST00000651246.1:c.801-6T>G	ENSP00000498484.1:n.801-6T>G
ENST00000651501.1:c.*656-6T>G	ENSP00000498894.1:n.*656-6T>G
ENST00000651717.1:c.*485-6T>G	ENSP00000499124.1:n.*485-6T>G
ENST00000652036.1:c.885-6T>G	ENSP00000499139.1:n.885-6T>G
ENST00000295497.11:c.834-6T>G	ENSP00000295497.7:n.834-6T>G
ENST00000409156.7:c.1131-6T>G	ENSP00000386470.3:n.1131-6T>G
ENST00000409597.5:c.657-6T>G	ENSP00000386469.1:n.657-6T>G
ENST00000409900.7:c.1209-6T>G	ENSP00000386741.3:n.1209-6T>G
ENST00000488080.5:n.1060-6T>G
ENST00000492964.1:n.352-6T>G
NM_001025201.3:c.1131-6T>G	NP_001020372.2:n.1131-6T>G
NM_001206602.1:c.834-6T>G	NP_001193531.1:n.834-6T>G
NM_001822.5:c.1209-6T>G	NP_001813.1:n.1209-6T>G
NR_038133.1:n.1075-6T>G
NM_001025201.4:c.1131-6T>G	NP_001020372.2:n.1131-6T>G
NM_001206602.2:c.834-6T>G	NP_001193531.1:n.834-6T>G
NM_001371513.1:c.1209-6T>G	NP_001358442.1:n.1209-6T>G
NM_001371514.1:c.1260-6T>G	NP_001358443.1:n.1260-6T>G
NM_001822.7:c.1209-6T>G MANE Select	NP_001813.1:n.1209-6T>G
NR_038133.2:n.1077-6T>G