Canonical Allele Identifier: CA349342373

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664956C>A (hg19) ; chr2:g.174800228C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800228C>A , CM000664.2:g.174800228C>A	GRCh38
NC_000002.11:g.175664956C>A , CM000664.1:g.175664956C>A	GRCh37
NC_000002.10:g.175373202C>A	NCBI36
NG_012642.1:g.210215G>T
NG_012642.2:g.210215G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.893G>T	ENSP00000295497.7:p.Gly298Val
ENST00000295497.12:c.893G>T	ENSP00000295497.7:p.Gly298Val
ENST00000409900.9:c.1268G>T MANE Select	ENSP00000386741.4:p.Gly423Val
ENST00000413882.6:c.722G>T	ENSP00000410496.2:p.Gly241Val
ENST00000443238.6:c.746G>T	ENSP00000409798.2:p.Gly249Val
ENST00000488080.6:n.911G>T
ENST00000650731.1:c.593G>T	ENSP00000499146.1:p.Gly198Val
ENST00000650938.1:c.654G>T
ENST00000651246.1:c.860G>T	ENSP00000498484.1:p.Gly287Val
ENST00000651501.1:c.*715G>T	ENSP00000498894.1:n.*715G>T
ENST00000651717.1:c.*544G>T	ENSP00000499124.1:n.*544G>T
ENST00000652036.1:c.944G>T	ENSP00000499139.1:p.Gly315Val
ENST00000295497.11:c.893G>T	ENSP00000295497.7:p.Gly298Val
ENST00000409156.7:c.1190G>T	ENSP00000386470.3:p.Gly397Val
ENST00000409597.5:c.716G>T	ENSP00000386469.1:p.Gly239Val
ENST00000409900.7:c.1268G>T	ENSP00000386741.3:p.Gly423Val
ENST00000488080.5:n.1119G>T
ENST00000492964.1:n.411G>T
NM_001025201.3:c.1190G>T	NP_001020372.2:p.Gly397Val
NM_001206602.1:c.893G>T	NP_001193531.1:p.Gly298Val
NM_001822.5:c.1268G>T	NP_001813.1:p.Gly423Val
NR_038133.1:n.1134G>T
NM_001025201.4:c.1190G>T	NP_001020372.2:p.Gly397Val
NM_001206602.2:c.893G>T	NP_001193531.1:p.Gly298Val
NM_001371513.1:c.1268G>T	NP_001358442.1:p.Gly423Val
NM_001371514.1:c.1319G>T	NP_001358443.1:p.Gly440Val
NM_001822.7:c.1268G>T MANE Select	NP_001813.1:p.Gly423Val
NR_038133.2:n.1136G>T