Canonical Allele Identifier: CA349341836

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664848A>T (hg19) ; chr2:g.174800120A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800120A>T , CM000664.2:g.174800120A>T	GRCh38
NC_000002.11:g.175664848A>T , CM000664.1:g.175664848A>T	GRCh37
NC_000002.10:g.175373094A>T	NCBI36
NG_012642.1:g.210323T>A
NG_012642.2:g.210323T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.1001T>A	ENSP00000295497.7:p.Phe334Tyr
ENST00000295497.12:c.1001T>A	ENSP00000295497.7:p.Phe334Tyr
ENST00000409900.9:c.1376T>A MANE Select	ENSP00000386741.4:p.Phe459Tyr
ENST00000413882.6:c.830T>A	ENSP00000410496.2:p.Phe277Tyr
ENST00000443238.6:c.854T>A	ENSP00000409798.2:p.Phe285Tyr
ENST00000488080.6:n.1019T>A
ENST00000650731.1:c.701T>A	ENSP00000499146.1:p.Phe234Tyr
ENST00000650938.1:c.762T>A
ENST00000651246.1:c.968T>A	ENSP00000498484.1:p.Phe323Tyr
ENST00000651501.1:c.*823T>A	ENSP00000498894.1:n.*823T>A
ENST00000651717.1:c.*652T>A	ENSP00000499124.1:n.*652T>A
ENST00000652036.1:c.1052T>A	ENSP00000499139.1:p.Phe351Tyr
ENST00000295497.11:c.1001T>A	ENSP00000295497.7:p.Phe334Tyr
ENST00000409156.7:c.1298T>A	ENSP00000386470.3:p.Phe433Tyr
ENST00000409597.5:c.824T>A	ENSP00000386469.1:p.Phe275Tyr
ENST00000409900.7:c.1376T>A	ENSP00000386741.3:p.Phe459Tyr
ENST00000488080.5:n.1227T>A
ENST00000492964.1:n.519T>A
NM_001025201.3:c.1298T>A	NP_001020372.2:p.Phe433Tyr
NM_001206602.1:c.1001T>A	NP_001193531.1:p.Phe334Tyr
NM_001822.5:c.1376T>A	NP_001813.1:p.Phe459Tyr
NR_038133.1:n.1242T>A
NM_001025201.4:c.1298T>A	NP_001020372.2:p.Phe433Tyr
NM_001206602.2:c.1001T>A	NP_001193531.1:p.Phe334Tyr
NM_001371513.1:c.1376T>A	NP_001358442.1:p.Phe459Tyr
NM_001371514.1:c.1427T>A	NP_001358443.1:p.Phe476Tyr
NM_001822.7:c.1376T>A MANE Select	NP_001813.1:p.Phe459Tyr
NR_038133.2:n.1244T>A