Canonical Allele Identifier: CA349342335

Gene: CHN1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.901C>T	ENSP00000295497.7:p.Leu301Phe
ENST00000295497.12:c.901C>T	ENSP00000295497.7:p.Leu301Phe
ENST00000409900.9:c.1276C>T MANE Select	ENSP00000386741.4:p.Leu426Phe
ENST00000413882.6:c.730C>T	ENSP00000410496.2:p.Leu244Phe
ENST00000443238.6:c.754C>T	ENSP00000409798.2:p.Leu252Phe
ENST00000488080.6:n.919C>T
ENST00000650731.1:c.601C>T	ENSP00000499146.1:p.Leu201Phe
ENST00000650938.1:c.662C>T
ENST00000651246.1:c.868C>T	ENSP00000498484.1:p.Leu290Phe
ENST00000651501.1:c.*723C>T	ENSP00000498894.1:n.*723C>T
ENST00000651717.1:c.*552C>T	ENSP00000499124.1:n.*552C>T
ENST00000652036.1:c.952C>T	ENSP00000499139.1:p.Leu318Phe
ENST00000295497.11:c.901C>T	ENSP00000295497.7:p.Leu301Phe
ENST00000409156.7:c.1198C>T	ENSP00000386470.3:p.Leu400Phe
ENST00000409597.5:c.724C>T	ENSP00000386469.1:p.Leu242Phe
ENST00000409900.7:c.1276C>T	ENSP00000386741.3:p.Leu426Phe
ENST00000488080.5:n.1127C>T
ENST00000492964.1:n.419C>T
NM_001025201.3:c.1198C>T	NP_001020372.2:p.Leu400Phe
NM_001206602.1:c.901C>T	NP_001193531.1:p.Leu301Phe
NM_001822.5:c.1276C>T	NP_001813.1:p.Leu426Phe
NR_038133.1:n.1142C>T
NM_001025201.4:c.1198C>T	NP_001020372.2:p.Leu400Phe
NM_001206602.2:c.901C>T	NP_001193531.1:p.Leu301Phe
NM_001371513.1:c.1276C>T	NP_001358442.1:p.Leu426Phe
NM_001371514.1:c.1327C>T	NP_001358443.1:p.Leu443Phe
NM_001822.7:c.1276C>T MANE Select	NP_001813.1:p.Leu426Phe
NR_038133.2:n.1144C>T