Canonical Allele Identifier: CA2842331087

Gene: CHN1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800070C>A , CM000664.2:g.174800070C>A	GRCh38
NC_000002.11:g.175664798C>A , CM000664.1:g.175664798C>A	GRCh37
NC_000002.10:g.175373044C>A	NCBI36
NG_012642.1:g.210373G>T
NG_012642.2:g.210373G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.*46G>T	ENSP00000295497.7:n.*46G>T
ENST00000295497.12:c.*46G>T	ENSP00000295497.7:n.*46G>T
ENST00000409900.9:c.*46G>T MANE Select	ENSP00000386741.4:n.*46G>T
ENST00000413882.6:c.*46G>T	ENSP00000410496.2:n.*46G>T
ENST00000443238.6:c.*46G>T	ENSP00000409798.2:n.*46G>T
ENST00000488080.6:n.1069G>T
ENST00000650731.1:c.*46G>T	ENSP00000499146.1:n.*46G>T
ENST00000650938.1:c.812G>T
ENST00000651246.1:c.*46G>T	ENSP00000498484.1:n.*46G>T
ENST00000651501.1:c.*873G>T	ENSP00000498894.1:n.*873G>T
ENST00000651717.1:c.*702G>T	ENSP00000499124.1:n.*702G>T
ENST00000652036.1:c.*46G>T	ENSP00000499139.1:n.*46G>T
ENST00000295497.11:c.*46G>T	ENSP00000295497.7:n.*46G>T
ENST00000409156.7:c.*46G>T	ENSP00000386470.3:n.*46G>T
ENST00000409597.5:c.*46G>T	ENSP00000386469.1:n.*46G>T
ENST00000409900.7:c.*46G>T	ENSP00000386741.3:n.*46G>T
ENST00000488080.5:n.1277G>T
ENST00000492964.1:n.569G>T
NM_001025201.3:c.*46G>T	NP_001020372.2:n.*46G>T
NM_001206602.1:c.*46G>T	NP_001193531.1:n.*46G>T
NM_001822.5:c.*46G>T	NP_001813.1:n.*46G>T
NR_038133.1:n.1292G>T
NM_001025201.4:c.*46G>T	NP_001020372.2:n.*46G>T
NM_001206602.2:c.*46G>T	NP_001193531.1:n.*46G>T
NM_001371513.1:c.*46G>T	NP_001358442.1:n.*46G>T
NM_001371514.1:c.*46G>T	NP_001358443.1:n.*46G>T
NM_001822.7:c.*46G>T MANE Select	NP_001813.1:n.*46G>T
NR_038133.2:n.1294G>T