Canonical Allele Identifier: CA349342603

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664990G>T (hg19) ; chr2:g.174800262G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800262G>T , CM000664.2:g.174800262G>T	GRCh38
NC_000002.11:g.175664990G>T , CM000664.1:g.175664990G>T	GRCh37
NC_000002.10:g.175373236G>T	NCBI36
NG_012642.1:g.210181C>A
NG_012642.2:g.210181C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.859C>A	ENSP00000295497.7:p.Leu287Ile
ENST00000295497.12:c.859C>A	ENSP00000295497.7:p.Leu287Ile
ENST00000409089.7:c.610C>A	ENSP00000386322.3:p.Leu204Ile
ENST00000409900.9:c.1234C>A MANE Select	ENSP00000386741.4:p.Leu412Ile
ENST00000413882.6:c.688C>A	ENSP00000410496.2:p.Leu230Ile
ENST00000443238.6:c.712C>A	ENSP00000409798.2:p.Leu238Ile
ENST00000488080.6:n.877C>A
ENST00000650731.1:c.559C>A	ENSP00000499146.1:p.Leu187Ile
ENST00000650938.1:c.620C>A
ENST00000651246.1:c.826C>A	ENSP00000498484.1:p.Leu276Ile
ENST00000651501.1:c.*681C>A	ENSP00000498894.1:n.*681C>A
ENST00000651717.1:c.*510C>A	ENSP00000499124.1:n.*510C>A
ENST00000652036.1:c.910C>A	ENSP00000499139.1:p.Leu304Ile
ENST00000295497.11:c.859C>A	ENSP00000295497.7:p.Leu287Ile
ENST00000409156.7:c.1156C>A	ENSP00000386470.3:p.Leu386Ile
ENST00000409597.5:c.682C>A	ENSP00000386469.1:p.Leu228Ile
ENST00000409900.7:c.1234C>A	ENSP00000386741.3:p.Leu412Ile
ENST00000488080.5:n.1085C>A
ENST00000492964.1:n.377C>A
NM_001025201.3:c.1156C>A	NP_001020372.2:p.Leu386Ile
NM_001206602.1:c.859C>A	NP_001193531.1:p.Leu287Ile
NM_001822.5:c.1234C>A	NP_001813.1:p.Leu412Ile
NR_038133.1:n.1100C>A
NM_001025201.4:c.1156C>A	NP_001020372.2:p.Leu386Ile
NM_001206602.2:c.859C>A	NP_001193531.1:p.Leu287Ile
NM_001371513.1:c.1234C>A	NP_001358442.1:p.Leu412Ile
NM_001371514.1:c.1285C>A	NP_001358443.1:p.Leu429Ile
NM_001822.7:c.1234C>A MANE Select	NP_001813.1:p.Leu412Ile
NR_038133.2:n.1102C>A