Canonical Allele Identifier: CA430016951

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664898C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800170C>A , CM000664.2:g.174800170C>A	GRCh38
NC_000002.11:g.175664898C>A , CM000664.1:g.175664898C>A	GRCh37
NC_000002.10:g.175373144C>A	NCBI36
NG_012642.1:g.210273G>T
NG_012642.2:g.210273G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.951G>T	ENSP00000295497.7:p.Arg317=
ENST00000295497.12:c.951G>T	ENSP00000295497.7:p.Arg317=
ENST00000409900.9:c.1326G>T MANE Select	ENSP00000386741.4:p.Arg442=
ENST00000413882.6:c.780G>T	ENSP00000410496.2:p.Arg260=
ENST00000443238.6:c.804G>T	ENSP00000409798.2:p.Arg268=
ENST00000488080.6:n.969G>T
ENST00000650731.1:c.651G>T	ENSP00000499146.1:p.Arg217=
ENST00000650938.1:c.712G>T
ENST00000651246.1:c.918G>T	ENSP00000498484.1:p.Arg306=
ENST00000651501.1:c.*773G>T	ENSP00000498894.1:n.*773G>T
ENST00000651717.1:c.*602G>T	ENSP00000499124.1:n.*602G>T
ENST00000652036.1:c.1002G>T	ENSP00000499139.1:p.Arg334=
ENST00000295497.11:c.951G>T	ENSP00000295497.7:p.Arg317=
ENST00000409156.7:c.1248G>T	ENSP00000386470.3:p.Arg416=
ENST00000409597.5:c.774G>T	ENSP00000386469.1:p.Arg258=
ENST00000409900.7:c.1326G>T	ENSP00000386741.3:p.Arg442=
ENST00000488080.5:n.1177G>T
ENST00000492964.1:n.469G>T
NM_001025201.3:c.1248G>T	NP_001020372.2:p.Arg416=
NM_001206602.1:c.951G>T	NP_001193531.1:p.Arg317=
NM_001822.5:c.1326G>T	NP_001813.1:p.Arg442=
NR_038133.1:n.1192G>T
NM_001025201.4:c.1248G>T	NP_001020372.2:p.Arg416=
NM_001206602.2:c.951G>T	NP_001193531.1:p.Arg317=
NM_001371513.1:c.1326G>T	NP_001358442.1:p.Arg442=
NM_001371514.1:c.1377G>T	NP_001358443.1:p.Arg459=
NM_001822.7:c.1326G>T MANE Select	NP_001813.1:p.Arg442=
NR_038133.2:n.1194G>T