Canonical Allele Identifier: CA430016518

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664853A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800125A>G , CM000664.2:g.174800125A>G	GRCh38
NC_000002.11:g.175664853A>G , CM000664.1:g.175664853A>G	GRCh37
NC_000002.10:g.175373099A>G	NCBI36
NG_012642.1:g.210318T>C
NG_012642.2:g.210318T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.996T>C	ENSP00000295497.7:p.Ile332=
ENST00000295497.12:c.996T>C	ENSP00000295497.7:p.Ile332=
ENST00000409900.9:c.1371T>C MANE Select	ENSP00000386741.4:p.Ile457=
ENST00000413882.6:c.825T>C	ENSP00000410496.2:p.Ile275=
ENST00000443238.6:c.849T>C	ENSP00000409798.2:p.Ile283=
ENST00000488080.6:n.1014T>C
ENST00000650731.1:c.696T>C	ENSP00000499146.1:p.Ile232=
ENST00000650938.1:c.757T>C
ENST00000651246.1:c.963T>C	ENSP00000498484.1:p.Ile321=
ENST00000651501.1:c.*818T>C	ENSP00000498894.1:n.*818T>C
ENST00000651717.1:c.*647T>C	ENSP00000499124.1:n.*647T>C
ENST00000652036.1:c.1047T>C	ENSP00000499139.1:p.Ile349=
ENST00000295497.11:c.996T>C	ENSP00000295497.7:p.Ile332=
ENST00000409156.7:c.1293T>C	ENSP00000386470.3:p.Ile431=
ENST00000409597.5:c.819T>C	ENSP00000386469.1:p.Ile273=
ENST00000409900.7:c.1371T>C	ENSP00000386741.3:p.Ile457=
ENST00000488080.5:n.1222T>C
ENST00000492964.1:n.514T>C
NM_001025201.3:c.1293T>C	NP_001020372.2:p.Ile431=
NM_001206602.1:c.996T>C	NP_001193531.1:p.Ile332=
NM_001822.5:c.1371T>C	NP_001813.1:p.Ile457=
NR_038133.1:n.1237T>C
NM_001025201.4:c.1293T>C	NP_001020372.2:p.Ile431=
NM_001206602.2:c.996T>C	NP_001193531.1:p.Ile332=
NM_001371513.1:c.1371T>C	NP_001358442.1:p.Ile457=
NM_001371514.1:c.1422T>C	NP_001358443.1:p.Ile474=
NM_001822.7:c.1371T>C MANE Select	NP_001813.1:p.Ile457=
NR_038133.2:n.1239T>C