Canonical Allele Identifier: CA349341864

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664855T>A (hg19) ; chr2:g.174800127T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800127T>A , CM000664.2:g.174800127T>A	GRCh38
NC_000002.11:g.175664855T>A , CM000664.1:g.175664855T>A	GRCh37
NC_000002.10:g.175373101T>A	NCBI36
NG_012642.1:g.210316A>T
NG_012642.2:g.210316A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.994A>T	ENSP00000295497.7:p.Ile332Phe
ENST00000295497.12:c.994A>T	ENSP00000295497.7:p.Ile332Phe
ENST00000409900.9:c.1369A>T MANE Select	ENSP00000386741.4:p.Ile457Phe
ENST00000413882.6:c.823A>T	ENSP00000410496.2:p.Ile275Phe
ENST00000443238.6:c.847A>T	ENSP00000409798.2:p.Ile283Phe
ENST00000488080.6:n.1012A>T
ENST00000650731.1:c.694A>T	ENSP00000499146.1:p.Ile232Phe
ENST00000650938.1:c.755A>T
ENST00000651246.1:c.961A>T	ENSP00000498484.1:p.Ile321Phe
ENST00000651501.1:c.*816A>T	ENSP00000498894.1:n.*816A>T
ENST00000651717.1:c.*645A>T	ENSP00000499124.1:n.*645A>T
ENST00000652036.1:c.1045A>T	ENSP00000499139.1:p.Ile349Phe
ENST00000295497.11:c.994A>T	ENSP00000295497.7:p.Ile332Phe
ENST00000409156.7:c.1291A>T	ENSP00000386470.3:p.Ile431Phe
ENST00000409597.5:c.817A>T	ENSP00000386469.1:p.Ile273Phe
ENST00000409900.7:c.1369A>T	ENSP00000386741.3:p.Ile457Phe
ENST00000488080.5:n.1220A>T
ENST00000492964.1:n.512A>T
NM_001025201.3:c.1291A>T	NP_001020372.2:p.Ile431Phe
NM_001206602.1:c.994A>T	NP_001193531.1:p.Ile332Phe
NM_001822.5:c.1369A>T	NP_001813.1:p.Ile457Phe
NR_038133.1:n.1235A>T
NM_001025201.4:c.1291A>T	NP_001020372.2:p.Ile431Phe
NM_001206602.2:c.994A>T	NP_001193531.1:p.Ile332Phe
NM_001371513.1:c.1369A>T	NP_001358442.1:p.Ile457Phe
NM_001371514.1:c.1420A>T	NP_001358443.1:p.Ile474Phe
NM_001822.7:c.1369A>T MANE Select	NP_001813.1:p.Ile457Phe
NR_038133.2:n.1237A>T