Canonical Allele Identifier: CA1139657362

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.175004935C>A , CM000664.2:g.175004935C>A	GRCh38
NC_000002.11:g.175869663C>A , CM000664.1:g.175869663C>A	GRCh37
NC_000002.10:g.175577909C>A	NCBI36
NG_012642.1:g.5508G>T
NG_012642.2:g.5508G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001822.7:c.-23G>T MANE Select	NP_001813.1:n.-23G>T
ENST00000409900.9:c.-23G>T MANE Select	ENSP00000386741.4:n.-23G>T
NM_001025201.3:c.-23G>T	NP_001020372.2:n.-23G>T
NM_001025201.4:c.-23G>T	NP_001020372.2:n.-23G>T
NM_001371513.1:c.-23G>T	NP_001358442.1:n.-23G>T
NM_001371514.1:c.-23G>T	NP_001358443.1:n.-23G>T
NM_001822.5:c.-23G>T	NP_001813.1:n.-23G>T
NR_038133.1:n.174+271G>T
NR_038133.2:n.176+271G>T
ENST00000409156.7:c.-23G>T	ENSP00000386470.3:n.-23G>T
ENST00000409900.7:c.-23G>T	ENSP00000386741.3:n.-23G>T
ENST00000425395.5:c.-23G>T	ENSP00000405270.1:n.-23G>T
ENST00000425395.6:c.-91G>T	ENSP00000405270.2:n.-91G>T
ENST00000444573.2:c.-138+271G>T	ENSP00000392603.2:n.-138+271G>T
ENST00000451799.1:c.-23G>T	ENSP00000416316.1:n.-23G>T
ENST00000451799.2:c.-271G>T	ENSP00000416316.2:n.-271G>T
ENST00000469597.1:n.285G>T
ENST00000469597.2:c.-23G>T	ENSP00000498417.1:n.-23G>T
ENST00000488080.5:n.159+271G>T
ENST00000650734.1:c.-23G>T	ENSP00000498742.1:n.-23G>T
ENST00000650770.1:c.-23G>T	ENSP00000499036.1:n.-23G>T
ENST00000651501.1:c.-138+271G>T	ENSP00000498894.1:n.-138+271G>T
ENST00000651599.1:c.-52G>T	ENSP00000498535.1:n.-52G>T
ENST00000651803.1:c.-23G>T	ENSP00000499007.1:n.-23G>T
ENST00000651971.1:c.-23G>T	ENSP00000499035.1:n.-23G>T
ENST00000652157.1:n.210G>T
ENST00000652208.1:c.-274G>T	ENSP00000498475.1:n.-274G>T
ENST00000652434.1:c.-340G>T	ENSP00000498549.1:n.-340G>T