Canonical Allele Identifier: CA349347701

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689176C>G (hg19) ; chr2:g.174824448C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824448C>G , CM000664.2:g.174824448C>G	GRCh38
NC_000002.11:g.175689176C>G , CM000664.1:g.175689176C>G	GRCh37
NC_000002.10:g.175397422C>G	NCBI36
NG_012642.1:g.185995G>C
NG_012642.2:g.185995G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.323G>C	ENSP00000295497.7:p.Gly108Ala
ENST00000444394.7:c.323G>C	ENSP00000411911.2:p.Gly108Ala
ENST00000295497.12:c.323G>C	ENSP00000295497.7:p.Gly108Ala
ENST00000409089.7:c.23G>C	ENSP00000386322.3:p.Gly8Ala
ENST00000409900.9:c.698G>C MANE Select	ENSP00000386741.4:p.Gly233Ala
ENST00000413882.6:c.152G>C	ENSP00000410496.2:p.Gly51Ala
ENST00000425395.6:c.*145G>C	ENSP00000405270.2:n.*145G>C
ENST00000443238.6:c.176G>C	ENSP00000409798.2:p.Gly59Ala
ENST00000444394.6:c.323G>C	ENSP00000411911.2:p.Gly108Ala
ENST00000444573.2:c.542G>C	ENSP00000392603.2:p.Gly181Ala
ENST00000488080.6:n.341G>C
ENST00000650731.1:c.23G>C	ENSP00000499146.1:p.Gly8Ala
ENST00000650938.1:c.222G>C
ENST00000651246.1:c.290G>C	ENSP00000498484.1:p.Gly97Ala
ENST00000651373.1:c.212G>C	ENSP00000499174.1:p.Gly71Ala
ENST00000651501.1:c.*145G>C	ENSP00000498894.1:n.*145G>C
ENST00000651717.1:c.253-11966G>C	ENSP00000499124.1:n.253-11966G>C
ENST00000652036.1:c.323G>C	ENSP00000499139.1:p.Gly108Ala
ENST00000652154.1:n.596G>C
ENST00000295497.11:c.323G>C	ENSP00000295497.7:p.Gly108Ala
ENST00000409089.6:c.23G>C	ENSP00000386322.2:p.Gly8Ala
ENST00000409156.7:c.620G>C	ENSP00000386470.3:p.Gly207Ala
ENST00000409597.5:c.146G>C	ENSP00000386469.1:p.Gly49Ala
ENST00000409900.7:c.698G>C	ENSP00000386741.3:p.Gly233Ala
ENST00000413882.5:c.152G>C	ENSP00000410496.1:p.Gly51Ala
ENST00000425395.5:c.*249G>C	ENSP00000405270.1:n.*249G>C
ENST00000443238.5:c.176G>C	ENSP00000409798.1:p.Gly59Ala
ENST00000444394.5:c.23G>C	ENSP00000411911.1:p.Gly8Ala
ENST00000444573.1:c.323G>C	ENSP00000392603.1:p.Gly108Ala
ENST00000485882.1:n.157G>C
ENST00000488080.5:n.549G>C
NM_001025201.3:c.620G>C	NP_001020372.2:p.Gly207Ala
NM_001206602.1:c.323G>C	NP_001193531.1:p.Gly108Ala
NM_001822.5:c.698G>C	NP_001813.1:p.Gly233Ala
NR_038133.1:n.564G>C
NM_001025201.4:c.620G>C	NP_001020372.2:p.Gly207Ala
NM_001206602.2:c.323G>C	NP_001193531.1:p.Gly108Ala
NM_001371513.1:c.698G>C	NP_001358442.1:p.Gly233Ala
NM_001371514.1:c.749G>C	NP_001358443.1:p.Gly250Ala
NM_001822.7:c.698G>C MANE Select	NP_001813.1:p.Gly233Ala
NR_038133.2:n.566G>C