Canonical Allele Identifier: CA349342387

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664958A>T (hg19) ; chr2:g.174800230A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800230A>T , CM000664.2:g.174800230A>T	GRCh38
NC_000002.11:g.175664958A>T , CM000664.1:g.175664958A>T	GRCh37
NC_000002.10:g.175373204A>T	NCBI36
NG_012642.1:g.210213T>A
NG_012642.2:g.210213T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.891T>A	ENSP00000295497.7:p.Phe297Leu
ENST00000295497.12:c.891T>A	ENSP00000295497.7:p.Phe297Leu
ENST00000409900.9:c.1266T>A MANE Select	ENSP00000386741.4:p.Phe422Leu
ENST00000413882.6:c.720T>A	ENSP00000410496.2:p.Phe240Leu
ENST00000443238.6:c.744T>A	ENSP00000409798.2:p.Phe248Leu
ENST00000488080.6:n.909T>A
ENST00000650731.1:c.591T>A	ENSP00000499146.1:p.Phe197Leu
ENST00000650938.1:c.652T>A
ENST00000651246.1:c.858T>A	ENSP00000498484.1:p.Phe286Leu
ENST00000651501.1:c.*713T>A	ENSP00000498894.1:n.*713T>A
ENST00000651717.1:c.*542T>A	ENSP00000499124.1:n.*542T>A
ENST00000652036.1:c.942T>A	ENSP00000499139.1:p.Phe314Leu
ENST00000295497.11:c.891T>A	ENSP00000295497.7:p.Phe297Leu
ENST00000409156.7:c.1188T>A	ENSP00000386470.3:p.Phe396Leu
ENST00000409597.5:c.714T>A	ENSP00000386469.1:p.Phe238Leu
ENST00000409900.7:c.1266T>A	ENSP00000386741.3:p.Phe422Leu
ENST00000488080.5:n.1117T>A
ENST00000492964.1:n.409T>A
NM_001025201.3:c.1188T>A	NP_001020372.2:p.Phe396Leu
NM_001206602.1:c.891T>A	NP_001193531.1:p.Phe297Leu
NM_001822.5:c.1266T>A	NP_001813.1:p.Phe422Leu
NR_038133.1:n.1132T>A
NM_001025201.4:c.1188T>A	NP_001020372.2:p.Phe396Leu
NM_001206602.2:c.891T>A	NP_001193531.1:p.Phe297Leu
NM_001371513.1:c.1266T>A	NP_001358442.1:p.Phe422Leu
NM_001371514.1:c.1317T>A	NP_001358443.1:p.Phe439Leu
NM_001822.7:c.1266T>A MANE Select	NP_001813.1:p.Phe422Leu
NR_038133.2:n.1134T>A