Canonical Allele Identifier: CA349341962

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664875A>C (hg19) ; chr2:g.174800147A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800147A>C , CM000664.2:g.174800147A>C	GRCh38
NC_000002.11:g.175664875A>C , CM000664.1:g.175664875A>C	GRCh37
NC_000002.10:g.175373121A>C	NCBI36
NG_012642.1:g.210296T>G
NG_012642.2:g.210296T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.974T>G	ENSP00000295497.7:p.Leu325Arg
ENST00000295497.12:c.974T>G	ENSP00000295497.7:p.Leu325Arg
ENST00000409900.9:c.1349T>G MANE Select	ENSP00000386741.4:p.Leu450Arg
ENST00000413882.6:c.803T>G	ENSP00000410496.2:p.Leu268Arg
ENST00000443238.6:c.827T>G	ENSP00000409798.2:p.Leu276Arg
ENST00000488080.6:n.992T>G
ENST00000650731.1:c.674T>G	ENSP00000499146.1:p.Leu225Arg
ENST00000650938.1:c.735T>G
ENST00000651246.1:c.941T>G	ENSP00000498484.1:p.Leu314Arg
ENST00000651501.1:c.*796T>G	ENSP00000498894.1:n.*796T>G
ENST00000651717.1:c.*625T>G	ENSP00000499124.1:n.*625T>G
ENST00000652036.1:c.1025T>G	ENSP00000499139.1:p.Leu342Arg
ENST00000295497.11:c.974T>G	ENSP00000295497.7:p.Leu325Arg
ENST00000409156.7:c.1271T>G	ENSP00000386470.3:p.Leu424Arg
ENST00000409597.5:c.797T>G	ENSP00000386469.1:p.Leu266Arg
ENST00000409900.7:c.1349T>G	ENSP00000386741.3:p.Leu450Arg
ENST00000488080.5:n.1200T>G
ENST00000492964.1:n.492T>G
NM_001025201.3:c.1271T>G	NP_001020372.2:p.Leu424Arg
NM_001206602.1:c.974T>G	NP_001193531.1:p.Leu325Arg
NM_001822.5:c.1349T>G	NP_001813.1:p.Leu450Arg
NR_038133.1:n.1215T>G
NM_001025201.4:c.1271T>G	NP_001020372.2:p.Leu424Arg
NM_001206602.2:c.974T>G	NP_001193531.1:p.Leu325Arg
NM_001371513.1:c.1349T>G	NP_001358442.1:p.Leu450Arg
NM_001371514.1:c.1400T>G	NP_001358443.1:p.Leu467Arg
NM_001822.7:c.1349T>G MANE Select	NP_001813.1:p.Leu450Arg
NR_038133.2:n.1217T>G