Canonical Allele Identifier: CA349342746

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175665013A>T (hg19) ; chr2:g.174800285A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800285A>T , CM000664.2:g.174800285A>T	GRCh38
NC_000002.11:g.175665013A>T , CM000664.1:g.175665013A>T	GRCh37
NC_000002.10:g.175373259A>T	NCBI36
NG_012642.1:g.210158T>A
NG_012642.2:g.210158T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.836T>A	ENSP00000295497.7:p.Val279Glu
ENST00000444394.7:c.965T>A	ENSP00000411911.2:p.Val322Glu
ENST00000295497.12:c.836T>A	ENSP00000295497.7:p.Val279Glu
ENST00000409089.7:c.587T>A	ENSP00000386322.3:p.Val196Glu
ENST00000409900.9:c.1211T>A MANE Select	ENSP00000386741.4:p.Val404Glu
ENST00000413882.6:c.665T>A	ENSP00000410496.2:p.Val222Glu
ENST00000443238.6:c.689T>A	ENSP00000409798.2:p.Val230Glu
ENST00000444394.6:c.965T>A	ENSP00000411911.2:p.Val322Glu
ENST00000488080.6:n.854T>A
ENST00000650731.1:c.536T>A	ENSP00000499146.1:p.Val179Glu
ENST00000650938.1:c.597T>A
ENST00000651246.1:c.803T>A	ENSP00000498484.1:p.Val268Glu
ENST00000651501.1:c.*658T>A	ENSP00000498894.1:n.*658T>A
ENST00000651717.1:c.*487T>A	ENSP00000499124.1:n.*487T>A
ENST00000652036.1:c.887T>A	ENSP00000499139.1:p.Val296Glu
ENST00000295497.11:c.836T>A	ENSP00000295497.7:p.Val279Glu
ENST00000409156.7:c.1133T>A	ENSP00000386470.3:p.Val378Glu
ENST00000409597.5:c.659T>A	ENSP00000386469.1:p.Val220Glu
ENST00000409900.7:c.1211T>A	ENSP00000386741.3:p.Val404Glu
ENST00000488080.5:n.1062T>A
ENST00000492964.1:n.354T>A
NM_001025201.3:c.1133T>A	NP_001020372.2:p.Val378Glu
NM_001206602.1:c.836T>A	NP_001193531.1:p.Val279Glu
NM_001822.5:c.1211T>A	NP_001813.1:p.Val404Glu
NR_038133.1:n.1077T>A
NM_001025201.4:c.1133T>A	NP_001020372.2:p.Val378Glu
NM_001206602.2:c.836T>A	NP_001193531.1:p.Val279Glu
NM_001371513.1:c.1211T>A	NP_001358442.1:p.Val404Glu
NM_001371514.1:c.1262T>A	NP_001358443.1:p.Val421Glu
NM_001822.7:c.1211T>A MANE Select	NP_001813.1:p.Val404Glu
NR_038133.2:n.1079T>A