Canonical Allele Identifier: CA349342486

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664972G>C (hg19) ; chr2:g.174800244G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800244G>C , CM000664.2:g.174800244G>C	GRCh38
NC_000002.11:g.175664972G>C , CM000664.1:g.175664972G>C	GRCh37
NC_000002.10:g.175373218G>C	NCBI36
NG_012642.1:g.210199C>G
NG_012642.2:g.210199C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.877C>G	ENSP00000295497.7:p.Leu293Val
ENST00000295497.12:c.877C>G	ENSP00000295497.7:p.Leu293Val
ENST00000409900.9:c.1252C>G MANE Select	ENSP00000386741.4:p.Leu418Val
ENST00000413882.6:c.706C>G	ENSP00000410496.2:p.Leu236Val
ENST00000443238.6:c.730C>G	ENSP00000409798.2:p.Leu244Val
ENST00000488080.6:n.895C>G
ENST00000650731.1:c.577C>G	ENSP00000499146.1:p.Leu193Val
ENST00000650938.1:c.638C>G
ENST00000651246.1:c.844C>G	ENSP00000498484.1:p.Leu282Val
ENST00000651501.1:c.*699C>G	ENSP00000498894.1:n.*699C>G
ENST00000651717.1:c.*528C>G	ENSP00000499124.1:n.*528C>G
ENST00000652036.1:c.928C>G	ENSP00000499139.1:p.Leu310Val
ENST00000295497.11:c.877C>G	ENSP00000295497.7:p.Leu293Val
ENST00000409156.7:c.1174C>G	ENSP00000386470.3:p.Leu392Val
ENST00000409597.5:c.700C>G	ENSP00000386469.1:p.Leu234Val
ENST00000409900.7:c.1252C>G	ENSP00000386741.3:p.Leu418Val
ENST00000488080.5:n.1103C>G
ENST00000492964.1:n.395C>G
NM_001025201.3:c.1174C>G	NP_001020372.2:p.Leu392Val
NM_001206602.1:c.877C>G	NP_001193531.1:p.Leu293Val
NM_001822.5:c.1252C>G	NP_001813.1:p.Leu418Val
NR_038133.1:n.1118C>G
NM_001025201.4:c.1174C>G	NP_001020372.2:p.Leu392Val
NM_001206602.2:c.877C>G	NP_001193531.1:p.Leu293Val
NM_001371513.1:c.1252C>G	NP_001358442.1:p.Leu418Val
NM_001371514.1:c.1303C>G	NP_001358443.1:p.Leu435Val
NM_001822.7:c.1252C>G MANE Select	NP_001813.1:p.Leu418Val
NR_038133.2:n.1120C>G