Canonical Allele Identifier: CA2753244783

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799425T>A , CM000664.2:g.174799425T>A	GRCh38
NC_000002.11:g.175664153T>A , CM000664.1:g.175664153T>A	GRCh37
NC_000002.10:g.175372399T>A	NCBI36
NG_012642.1:g.211018A>T
NG_012642.2:g.211018A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.*691A>T	ENSP00000295497.7:n.*691A>T
ENST00000295497.12:c.*691A>T	ENSP00000295497.7:n.*691A>T
ENST00000409900.9:c.*691A>T MANE Select	ENSP00000386741.4:n.*691A>T
ENST00000443238.6:c.*691A>T	ENSP00000409798.2:n.*691A>T
ENST00000652036.1:c.*691A>T	ENSP00000499139.1:n.*691A>T
ENST00000409900.7:c.*691A>T	ENSP00000386741.3:n.*691A>T
NM_001025201.3:c.*691A>T	NP_001020372.2:n.*691A>T
NM_001206602.1:c.*691A>T	NP_001193531.1:n.*691A>T
NM_001822.5:c.*691A>T	NP_001813.1:n.*691A>T
NR_038133.1:n.1937A>T
NM_001025201.4:c.*691A>T	NP_001020372.2:n.*691A>T
NM_001206602.2:c.*691A>T	NP_001193531.1:n.*691A>T
NM_001371513.1:c.*691A>T	NP_001358442.1:n.*691A>T
NM_001371514.1:c.*691A>T	NP_001358443.1:n.*691A>T
NM_001822.7:c.*691A>T MANE Select	NP_001813.1:n.*691A>T
NR_038133.2:n.1939A>T