Canonical Allele Identifier: CA430017303

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664964G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800236G>T , CM000664.2:g.174800236G>T	GRCh38
NC_000002.11:g.175664964G>T , CM000664.1:g.175664964G>T	GRCh37
NC_000002.10:g.175373210G>T	NCBI36
NG_012642.1:g.210207C>A
NG_012642.2:g.210207C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.885C>A	ENSP00000295497.7:p.Ile295=
ENST00000295497.12:c.885C>A	ENSP00000295497.7:p.Ile295=
ENST00000409900.9:c.1260C>A MANE Select	ENSP00000386741.4:p.Ile420=
ENST00000413882.6:c.714C>A	ENSP00000410496.2:p.Ile238=
ENST00000443238.6:c.738C>A	ENSP00000409798.2:p.Ile246=
ENST00000488080.6:n.903C>A
ENST00000650731.1:c.585C>A	ENSP00000499146.1:p.Ile195=
ENST00000650938.1:c.646C>A
ENST00000651246.1:c.852C>A	ENSP00000498484.1:p.Ile284=
ENST00000651501.1:c.*707C>A	ENSP00000498894.1:n.*707C>A
ENST00000651717.1:c.*536C>A	ENSP00000499124.1:n.*536C>A
ENST00000652036.1:c.936C>A	ENSP00000499139.1:p.Ile312=
ENST00000295497.11:c.885C>A	ENSP00000295497.7:p.Ile295=
ENST00000409156.7:c.1182C>A	ENSP00000386470.3:p.Ile394=
ENST00000409597.5:c.708C>A	ENSP00000386469.1:p.Ile236=
ENST00000409900.7:c.1260C>A	ENSP00000386741.3:p.Ile420=
ENST00000488080.5:n.1111C>A
ENST00000492964.1:n.403C>A
NM_001025201.3:c.1182C>A	NP_001020372.2:p.Ile394=
NM_001206602.1:c.885C>A	NP_001193531.1:p.Ile295=
NM_001822.5:c.1260C>A	NP_001813.1:p.Ile420=
NR_038133.1:n.1126C>A
NM_001025201.4:c.1182C>A	NP_001020372.2:p.Ile394=
NM_001206602.2:c.885C>A	NP_001193531.1:p.Ile295=
NM_001371513.1:c.1260C>A	NP_001358442.1:p.Ile420=
NM_001371514.1:c.1311C>A	NP_001358443.1:p.Ile437=
NM_001822.7:c.1260C>A MANE Select	NP_001813.1:p.Ile420=
NR_038133.2:n.1128C>A