Canonical Allele Identifier: CA349341831

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664847A>T (hg19) ; chr2:g.174800119A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800119A>T , CM000664.2:g.174800119A>T	GRCh38
NC_000002.11:g.175664847A>T , CM000664.1:g.175664847A>T	GRCh37
NC_000002.10:g.175373093A>T	NCBI36
NG_012642.1:g.210324T>A
NG_012642.2:g.210324T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.1002T>A	ENSP00000295497.7:p.Phe334Leu
ENST00000295497.12:c.1002T>A	ENSP00000295497.7:p.Phe334Leu
ENST00000409900.9:c.1377T>A MANE Select	ENSP00000386741.4:p.Phe459Leu
ENST00000413882.6:c.831T>A	ENSP00000410496.2:p.Phe277Leu
ENST00000443238.6:c.855T>A	ENSP00000409798.2:p.Phe285Leu
ENST00000488080.6:n.1020T>A
ENST00000650731.1:c.702T>A	ENSP00000499146.1:p.Phe234Leu
ENST00000650938.1:c.763T>A
ENST00000651246.1:c.969T>A	ENSP00000498484.1:p.Phe323Leu
ENST00000651501.1:c.*824T>A	ENSP00000498894.1:n.*824T>A
ENST00000651717.1:c.*653T>A	ENSP00000499124.1:n.*653T>A
ENST00000652036.1:c.1053T>A	ENSP00000499139.1:p.Phe351Leu
ENST00000295497.11:c.1002T>A	ENSP00000295497.7:p.Phe334Leu
ENST00000409156.7:c.1299T>A	ENSP00000386470.3:p.Phe433Leu
ENST00000409597.5:c.825T>A	ENSP00000386469.1:p.Phe275Leu
ENST00000409900.7:c.1377T>A	ENSP00000386741.3:p.Phe459Leu
ENST00000488080.5:n.1228T>A
ENST00000492964.1:n.520T>A
NM_001025201.3:c.1299T>A	NP_001020372.2:p.Phe433Leu
NM_001206602.1:c.1002T>A	NP_001193531.1:p.Phe334Leu
NM_001822.5:c.1377T>A	NP_001813.1:p.Phe459Leu
NR_038133.1:n.1243T>A
NM_001025201.4:c.1299T>A	NP_001020372.2:p.Phe433Leu
NM_001206602.2:c.1002T>A	NP_001193531.1:p.Phe334Leu
NM_001371513.1:c.1377T>A	NP_001358442.1:p.Phe459Leu
NM_001371514.1:c.1428T>A	NP_001358443.1:p.Phe476Leu
NM_001822.7:c.1377T>A MANE Select	NP_001813.1:p.Phe459Leu
NR_038133.2:n.1245T>A