Canonical Allele Identifier: CA349342339

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664948G>T (hg19) ; chr2:g.174800220G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800220G>T , CM000664.2:g.174800220G>T	GRCh38
NC_000002.11:g.175664948G>T , CM000664.1:g.175664948G>T	GRCh37
NC_000002.10:g.175373194G>T	NCBI36
NG_012642.1:g.210223C>A
NG_012642.2:g.210223C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.901C>A	ENSP00000295497.7:p.Leu301Ile
ENST00000295497.12:c.901C>A	ENSP00000295497.7:p.Leu301Ile
ENST00000409900.9:c.1276C>A MANE Select	ENSP00000386741.4:p.Leu426Ile
ENST00000413882.6:c.730C>A	ENSP00000410496.2:p.Leu244Ile
ENST00000443238.6:c.754C>A	ENSP00000409798.2:p.Leu252Ile
ENST00000488080.6:n.919C>A
ENST00000650731.1:c.601C>A	ENSP00000499146.1:p.Leu201Ile
ENST00000650938.1:c.662C>A
ENST00000651246.1:c.868C>A	ENSP00000498484.1:p.Leu290Ile
ENST00000651501.1:c.*723C>A	ENSP00000498894.1:n.*723C>A
ENST00000651717.1:c.*552C>A	ENSP00000499124.1:n.*552C>A
ENST00000652036.1:c.952C>A	ENSP00000499139.1:p.Leu318Ile
ENST00000295497.11:c.901C>A	ENSP00000295497.7:p.Leu301Ile
ENST00000409156.7:c.1198C>A	ENSP00000386470.3:p.Leu400Ile
ENST00000409597.5:c.724C>A	ENSP00000386469.1:p.Leu242Ile
ENST00000409900.7:c.1276C>A	ENSP00000386741.3:p.Leu426Ile
ENST00000488080.5:n.1127C>A
ENST00000492964.1:n.419C>A
NM_001025201.3:c.1198C>A	NP_001020372.2:p.Leu400Ile
NM_001206602.1:c.901C>A	NP_001193531.1:p.Leu301Ile
NM_001822.5:c.1276C>A	NP_001813.1:p.Leu426Ile
NR_038133.1:n.1142C>A
NM_001025201.4:c.1198C>A	NP_001020372.2:p.Leu400Ile
NM_001206602.2:c.901C>A	NP_001193531.1:p.Leu301Ile
NM_001371513.1:c.1276C>A	NP_001358442.1:p.Leu426Ile
NM_001371514.1:c.1327C>A	NP_001358443.1:p.Leu443Ile
NM_001822.7:c.1276C>A MANE Select	NP_001813.1:p.Leu426Ile
NR_038133.2:n.1144C>A