Canonical Allele Identifier: CA349342189

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664917G>C (hg19) ; chr2:g.174800189G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800189G>C , CM000664.2:g.174800189G>C	GRCh38
NC_000002.11:g.175664917G>C , CM000664.1:g.175664917G>C	GRCh37
NC_000002.10:g.175373163G>C	NCBI36
NG_012642.1:g.210254C>G
NG_012642.2:g.210254C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.932C>G	ENSP00000295497.7:p.Ala311Gly
ENST00000295497.12:c.932C>G	ENSP00000295497.7:p.Ala311Gly
ENST00000409900.9:c.1307C>G MANE Select	ENSP00000386741.4:p.Ala436Gly
ENST00000413882.6:c.761C>G	ENSP00000410496.2:p.Ala254Gly
ENST00000443238.6:c.785C>G	ENSP00000409798.2:p.Ala262Gly
ENST00000488080.6:n.950C>G
ENST00000650731.1:c.632C>G	ENSP00000499146.1:p.Ala211Gly
ENST00000650938.1:c.693C>G
ENST00000651246.1:c.899C>G	ENSP00000498484.1:p.Ala300Gly
ENST00000651501.1:c.*754C>G	ENSP00000498894.1:n.*754C>G
ENST00000651717.1:c.*583C>G	ENSP00000499124.1:n.*583C>G
ENST00000652036.1:c.983C>G	ENSP00000499139.1:p.Ala328Gly
ENST00000295497.11:c.932C>G	ENSP00000295497.7:p.Ala311Gly
ENST00000409156.7:c.1229C>G	ENSP00000386470.3:p.Ala410Gly
ENST00000409597.5:c.755C>G	ENSP00000386469.1:p.Ala252Gly
ENST00000409900.7:c.1307C>G	ENSP00000386741.3:p.Ala436Gly
ENST00000488080.5:n.1158C>G
ENST00000492964.1:n.450C>G
NM_001025201.3:c.1229C>G	NP_001020372.2:p.Ala410Gly
NM_001206602.1:c.932C>G	NP_001193531.1:p.Ala311Gly
NM_001822.5:c.1307C>G	NP_001813.1:p.Ala436Gly
NR_038133.1:n.1173C>G
NM_001025201.4:c.1229C>G	NP_001020372.2:p.Ala410Gly
NM_001206602.2:c.932C>G	NP_001193531.1:p.Ala311Gly
NM_001371513.1:c.1307C>G	NP_001358442.1:p.Ala436Gly
NM_001371514.1:c.1358C>G	NP_001358443.1:p.Ala453Gly
NM_001822.7:c.1307C>G MANE Select	NP_001813.1:p.Ala436Gly
NR_038133.2:n.1175C>G