Canonical Allele Identifier: CA430017289

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664946A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800218A>C , CM000664.2:g.174800218A>C	GRCh38
NC_000002.11:g.175664946A>C , CM000664.1:g.175664946A>C	GRCh37
NC_000002.10:g.175373192A>C	NCBI36
NG_012642.1:g.210225T>G
NG_012642.2:g.210225T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.903T>G	ENSP00000295497.7:p.Leu301=
ENST00000295497.12:c.903T>G	ENSP00000295497.7:p.Leu301=
ENST00000409900.9:c.1278T>G MANE Select	ENSP00000386741.4:p.Leu426=
ENST00000413882.6:c.732T>G	ENSP00000410496.2:p.Leu244=
ENST00000443238.6:c.756T>G	ENSP00000409798.2:p.Leu252=
ENST00000488080.6:n.921T>G
ENST00000650731.1:c.603T>G	ENSP00000499146.1:p.Leu201=
ENST00000650938.1:c.664T>G
ENST00000651246.1:c.870T>G	ENSP00000498484.1:p.Leu290=
ENST00000651501.1:c.*725T>G	ENSP00000498894.1:n.*725T>G
ENST00000651717.1:c.*554T>G	ENSP00000499124.1:n.*554T>G
ENST00000652036.1:c.954T>G	ENSP00000499139.1:p.Leu318=
ENST00000295497.11:c.903T>G	ENSP00000295497.7:p.Leu301=
ENST00000409156.7:c.1200T>G	ENSP00000386470.3:p.Leu400=
ENST00000409597.5:c.726T>G	ENSP00000386469.1:p.Leu242=
ENST00000409900.7:c.1278T>G	ENSP00000386741.3:p.Leu426=
ENST00000488080.5:n.1129T>G
ENST00000492964.1:n.421T>G
NM_001025201.3:c.1200T>G	NP_001020372.2:p.Leu400=
NM_001206602.1:c.903T>G	NP_001193531.1:p.Leu301=
NM_001822.5:c.1278T>G	NP_001813.1:p.Leu426=
NR_038133.1:n.1144T>G
NM_001025201.4:c.1200T>G	NP_001020372.2:p.Leu400=
NM_001206602.2:c.903T>G	NP_001193531.1:p.Leu301=
NM_001371513.1:c.1278T>G	NP_001358442.1:p.Leu426=
NM_001371514.1:c.1329T>G	NP_001358443.1:p.Leu443=
NM_001822.7:c.1278T>G MANE Select	NP_001813.1:p.Leu426=
NR_038133.2:n.1146T>G