Canonical Allele Identifier: CA349342273

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800205-C-T
• MyVariant Identifiers: chr2:g.175664933C>T (hg19) ; chr2:g.174800205C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800205C>T , CM000664.2:g.174800205C>T	GRCh38
NC_000002.11:g.175664933C>T , CM000664.1:g.175664933C>T	GRCh37
NC_000002.10:g.175373179C>T	NCBI36
NG_012642.1:g.210238G>A
NG_012642.2:g.210238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.916G>A	ENSP00000295497.7:p.Glu306Lys
ENST00000295497.12:c.916G>A	ENSP00000295497.7:p.Glu306Lys
ENST00000409900.9:c.1291G>A MANE Select	ENSP00000386741.4:p.Glu431Lys
ENST00000413882.6:c.745G>A	ENSP00000410496.2:p.Glu249Lys
ENST00000443238.6:c.769G>A	ENSP00000409798.2:p.Glu257Lys
ENST00000488080.6:n.934G>A
ENST00000650731.1:c.616G>A	ENSP00000499146.1:p.Glu206Lys
ENST00000650938.1:c.677G>A
ENST00000651246.1:c.883G>A	ENSP00000498484.1:p.Glu295Lys
ENST00000651501.1:c.*738G>A	ENSP00000498894.1:n.*738G>A
ENST00000651717.1:c.*567G>A	ENSP00000499124.1:n.*567G>A
ENST00000652036.1:c.967G>A	ENSP00000499139.1:p.Glu323Lys
ENST00000295497.11:c.916G>A	ENSP00000295497.7:p.Glu306Lys
ENST00000409156.7:c.1213G>A	ENSP00000386470.3:p.Glu405Lys
ENST00000409597.5:c.739G>A	ENSP00000386469.1:p.Glu247Lys
ENST00000409900.7:c.1291G>A	ENSP00000386741.3:p.Glu431Lys
ENST00000488080.5:n.1142G>A
ENST00000492964.1:n.434G>A
NM_001025201.3:c.1213G>A	NP_001020372.2:p.Glu405Lys
NM_001206602.1:c.916G>A	NP_001193531.1:p.Glu306Lys
NM_001822.5:c.1291G>A	NP_001813.1:p.Glu431Lys
NR_038133.1:n.1157G>A
NM_001025201.4:c.1213G>A	NP_001020372.2:p.Glu405Lys
NM_001206602.2:c.916G>A	NP_001193531.1:p.Glu306Lys
NM_001371513.1:c.1291G>A	NP_001358442.1:p.Glu431Lys
NM_001371514.1:c.1342G>A	NP_001358443.1:p.Glu448Lys
NM_001822.7:c.1291G>A MANE Select	NP_001813.1:p.Glu431Lys
NR_038133.2:n.1159G>A