Canonical Allele Identifier: CA349342219

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664923G>T (hg19) ; chr2:g.174800195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800195G>T , CM000664.2:g.174800195G>T	GRCh38
NC_000002.11:g.175664923G>T , CM000664.1:g.175664923G>T	GRCh37
NC_000002.10:g.175373169G>T	NCBI36
NG_012642.1:g.210248C>A
NG_012642.2:g.210248C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.926C>A	ENSP00000295497.7:p.Ala309Asp
ENST00000295497.12:c.926C>A	ENSP00000295497.7:p.Ala309Asp
ENST00000409900.9:c.1301C>A MANE Select	ENSP00000386741.4:p.Ala434Asp
ENST00000413882.6:c.755C>A	ENSP00000410496.2:p.Ala252Asp
ENST00000443238.6:c.779C>A	ENSP00000409798.2:p.Ala260Asp
ENST00000488080.6:n.944C>A
ENST00000650731.1:c.626C>A	ENSP00000499146.1:p.Ala209Asp
ENST00000650938.1:c.687C>A
ENST00000651246.1:c.893C>A	ENSP00000498484.1:p.Ala298Asp
ENST00000651501.1:c.*748C>A	ENSP00000498894.1:n.*748C>A
ENST00000651717.1:c.*577C>A	ENSP00000499124.1:n.*577C>A
ENST00000652036.1:c.977C>A	ENSP00000499139.1:p.Ala326Asp
ENST00000295497.11:c.926C>A	ENSP00000295497.7:p.Ala309Asp
ENST00000409156.7:c.1223C>A	ENSP00000386470.3:p.Ala408Asp
ENST00000409597.5:c.749C>A	ENSP00000386469.1:p.Ala250Asp
ENST00000409900.7:c.1301C>A	ENSP00000386741.3:p.Ala434Asp
ENST00000488080.5:n.1152C>A
ENST00000492964.1:n.444C>A
NM_001025201.3:c.1223C>A	NP_001020372.2:p.Ala408Asp
NM_001206602.1:c.926C>A	NP_001193531.1:p.Ala309Asp
NM_001822.5:c.1301C>A	NP_001813.1:p.Ala434Asp
NR_038133.1:n.1167C>A
NM_001025201.4:c.1223C>A	NP_001020372.2:p.Ala408Asp
NM_001206602.2:c.926C>A	NP_001193531.1:p.Ala309Asp
NM_001371513.1:c.1301C>A	NP_001358442.1:p.Ala434Asp
NM_001371514.1:c.1352C>A	NP_001358443.1:p.Ala451Asp
NM_001822.7:c.1301C>A MANE Select	NP_001813.1:p.Ala434Asp
NR_038133.2:n.1169C>A