Canonical Allele Identifier: CA430017290

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664949G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800221G>A , CM000664.2:g.174800221G>A	GRCh38
NC_000002.11:g.175664949G>A , CM000664.1:g.175664949G>A	GRCh37
NC_000002.10:g.175373195G>A	NCBI36
NG_012642.1:g.210222C>T
NG_012642.2:g.210222C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.900C>T	ENSP00000295497.7:p.Thr300=
ENST00000295497.12:c.900C>T	ENSP00000295497.7:p.Thr300=
ENST00000409900.9:c.1275C>T MANE Select	ENSP00000386741.4:p.Thr425=
ENST00000413882.6:c.729C>T	ENSP00000410496.2:p.Thr243=
ENST00000443238.6:c.753C>T	ENSP00000409798.2:p.Thr251=
ENST00000488080.6:n.918C>T
ENST00000650731.1:c.600C>T	ENSP00000499146.1:p.Thr200=
ENST00000650938.1:c.661C>T
ENST00000651246.1:c.867C>T	ENSP00000498484.1:p.Thr289=
ENST00000651501.1:c.*722C>T	ENSP00000498894.1:n.*722C>T
ENST00000651717.1:c.*551C>T	ENSP00000499124.1:n.*551C>T
ENST00000652036.1:c.951C>T	ENSP00000499139.1:p.Thr317=
ENST00000295497.11:c.900C>T	ENSP00000295497.7:p.Thr300=
ENST00000409156.7:c.1197C>T	ENSP00000386470.3:p.Thr399=
ENST00000409597.5:c.723C>T	ENSP00000386469.1:p.Thr241=
ENST00000409900.7:c.1275C>T	ENSP00000386741.3:p.Thr425=
ENST00000488080.5:n.1126C>T
ENST00000492964.1:n.418C>T
NM_001025201.3:c.1197C>T	NP_001020372.2:p.Thr399=
NM_001206602.1:c.900C>T	NP_001193531.1:p.Thr300=
NM_001822.5:c.1275C>T	NP_001813.1:p.Thr425=
NR_038133.1:n.1141C>T
NM_001025201.4:c.1197C>T	NP_001020372.2:p.Thr399=
NM_001206602.2:c.900C>T	NP_001193531.1:p.Thr300=
NM_001371513.1:c.1275C>T	NP_001358442.1:p.Thr425=
NM_001371514.1:c.1326C>T	NP_001358443.1:p.Thr442=
NM_001822.7:c.1275C>T MANE Select	NP_001813.1:p.Thr425=
NR_038133.2:n.1143C>T