Canonical Allele Identifier: CA349342729

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175665008G>T (hg19) ; chr2:g.174800280G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800280G>T , CM000664.2:g.174800280G>T	GRCh38
NC_000002.11:g.175665008G>T , CM000664.1:g.175665008G>T	GRCh37
NC_000002.10:g.175373254G>T	NCBI36
NG_012642.1:g.210163C>A
NG_012642.2:g.210163C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.841C>A	ENSP00000295497.7:p.Leu281Ile
ENST00000295497.12:c.841C>A	ENSP00000295497.7:p.Leu281Ile
ENST00000409089.7:c.592C>A	ENSP00000386322.3:p.Leu198Ile
ENST00000409900.9:c.1216C>A MANE Select	ENSP00000386741.4:p.Leu406Ile
ENST00000413882.6:c.670C>A	ENSP00000410496.2:p.Leu224Ile
ENST00000443238.6:c.694C>A	ENSP00000409798.2:p.Leu232Ile
ENST00000488080.6:n.859C>A
ENST00000650731.1:c.541C>A	ENSP00000499146.1:p.Leu181Ile
ENST00000650938.1:c.602C>A
ENST00000651246.1:c.808C>A	ENSP00000498484.1:p.Leu270Ile
ENST00000651501.1:c.*663C>A	ENSP00000498894.1:n.*663C>A
ENST00000651717.1:c.*492C>A	ENSP00000499124.1:n.*492C>A
ENST00000652036.1:c.892C>A	ENSP00000499139.1:p.Leu298Ile
ENST00000295497.11:c.841C>A	ENSP00000295497.7:p.Leu281Ile
ENST00000409156.7:c.1138C>A	ENSP00000386470.3:p.Leu380Ile
ENST00000409597.5:c.664C>A	ENSP00000386469.1:p.Leu222Ile
ENST00000409900.7:c.1216C>A	ENSP00000386741.3:p.Leu406Ile
ENST00000488080.5:n.1067C>A
ENST00000492964.1:n.359C>A
NM_001025201.3:c.1138C>A	NP_001020372.2:p.Leu380Ile
NM_001206602.1:c.841C>A	NP_001193531.1:p.Leu281Ile
NM_001822.5:c.1216C>A	NP_001813.1:p.Leu406Ile
NR_038133.1:n.1082C>A
NM_001025201.4:c.1138C>A	NP_001020372.2:p.Leu380Ile
NM_001206602.2:c.841C>A	NP_001193531.1:p.Leu281Ile
NM_001371513.1:c.1216C>A	NP_001358442.1:p.Leu406Ile
NM_001371514.1:c.1267C>A	NP_001358443.1:p.Leu423Ile
NM_001822.7:c.1216C>A MANE Select	NP_001813.1:p.Leu406Ile
NR_038133.2:n.1084C>A