Canonical Allele Identifier: CA430017190

Gene: CHN1

Linked Data

• dbSNP Id: rs2105368998
• MyVariant Identifiers: chr2:g.175664922G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800194G>A , CM000664.2:g.174800194G>A	GRCh38
NC_000002.11:g.175664922G>A , CM000664.1:g.175664922G>A	GRCh37
NC_000002.10:g.175373168G>A	NCBI36
NG_012642.1:g.210249C>T
NG_012642.2:g.210249C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.927C>T	ENSP00000295497.7:p.Ala309=
ENST00000295497.12:c.927C>T	ENSP00000295497.7:p.Ala309=
ENST00000409900.9:c.1302C>T MANE Select	ENSP00000386741.4:p.Ala434=
ENST00000413882.6:c.756C>T	ENSP00000410496.2:p.Ala252=
ENST00000443238.6:c.780C>T	ENSP00000409798.2:p.Ala260=
ENST00000488080.6:n.945C>T
ENST00000650731.1:c.627C>T	ENSP00000499146.1:p.Ala209=
ENST00000650938.1:c.688C>T
ENST00000651246.1:c.894C>T	ENSP00000498484.1:p.Ala298=
ENST00000651501.1:c.*749C>T	ENSP00000498894.1:n.*749C>T
ENST00000651717.1:c.*578C>T	ENSP00000499124.1:n.*578C>T
ENST00000652036.1:c.978C>T	ENSP00000499139.1:p.Ala326=
ENST00000295497.11:c.927C>T	ENSP00000295497.7:p.Ala309=
ENST00000409156.7:c.1224C>T	ENSP00000386470.3:p.Ala408=
ENST00000409597.5:c.750C>T	ENSP00000386469.1:p.Ala250=
ENST00000409900.7:c.1302C>T	ENSP00000386741.3:p.Ala434=
ENST00000488080.5:n.1153C>T
ENST00000492964.1:n.445C>T
NM_001025201.3:c.1224C>T	NP_001020372.2:p.Ala408=
NM_001206602.1:c.927C>T	NP_001193531.1:p.Ala309=
NM_001822.5:c.1302C>T	NP_001813.1:p.Ala434=
NR_038133.1:n.1168C>T
NM_001025201.4:c.1224C>T	NP_001020372.2:p.Ala408=
NM_001206602.2:c.927C>T	NP_001193531.1:p.Ala309=
NM_001371513.1:c.1302C>T	NP_001358442.1:p.Ala434=
NM_001371514.1:c.1353C>T	NP_001358443.1:p.Ala451=
NM_001822.7:c.1302C>T MANE Select	NP_001813.1:p.Ala434=
NR_038133.2:n.1170C>T