Canonical Allele Identifier: CA349347657

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689164G>C (hg19) ; chr2:g.174824436G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824436G>C , CM000664.2:g.174824436G>C	GRCh38
NC_000002.11:g.175689164G>C , CM000664.1:g.175689164G>C	GRCh37
NC_000002.10:g.175397410G>C	NCBI36
NG_012642.1:g.186007C>G
NG_012642.2:g.186007C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.335C>G	ENSP00000295497.7:p.Ala112Gly
ENST00000444394.7:c.335C>G	ENSP00000411911.2:p.Ala112Gly
ENST00000295497.12:c.335C>G	ENSP00000295497.7:p.Ala112Gly
ENST00000409089.7:c.35C>G	ENSP00000386322.3:p.Ala12Gly
ENST00000409900.9:c.710C>G MANE Select	ENSP00000386741.4:p.Ala237Gly
ENST00000413882.6:c.164C>G	ENSP00000410496.2:p.Ala55Gly
ENST00000425395.6:c.*157C>G	ENSP00000405270.2:n.*157C>G
ENST00000443238.6:c.188C>G	ENSP00000409798.2:p.Ala63Gly
ENST00000444394.6:c.335C>G	ENSP00000411911.2:p.Ala112Gly
ENST00000444573.2:c.554C>G	ENSP00000392603.2:p.Ala185Gly
ENST00000488080.6:n.353C>G
ENST00000650731.1:c.35C>G	ENSP00000499146.1:p.Ala12Gly
ENST00000650938.1:c.234C>G
ENST00000651246.1:c.302C>G	ENSP00000498484.1:p.Ala101Gly
ENST00000651373.1:c.224C>G	ENSP00000499174.1:p.Ala75Gly
ENST00000651501.1:c.*157C>G	ENSP00000498894.1:n.*157C>G
ENST00000651717.1:c.253-11954C>G	ENSP00000499124.1:n.253-11954C>G
ENST00000652036.1:c.335C>G	ENSP00000499139.1:p.Ala112Gly
ENST00000652154.1:n.608C>G
ENST00000295497.11:c.335C>G	ENSP00000295497.7:p.Ala112Gly
ENST00000409089.6:c.35C>G	ENSP00000386322.2:p.Ala12Gly
ENST00000409156.7:c.632C>G	ENSP00000386470.3:p.Ala211Gly
ENST00000409597.5:c.158C>G	ENSP00000386469.1:p.Ala53Gly
ENST00000409900.7:c.710C>G	ENSP00000386741.3:p.Ala237Gly
ENST00000413882.5:c.164C>G	ENSP00000410496.1:p.Ala55Gly
ENST00000425395.5:c.*261C>G	ENSP00000405270.1:n.*261C>G
ENST00000443238.5:c.188C>G	ENSP00000409798.1:p.Ala63Gly
ENST00000444394.5:c.35C>G	ENSP00000411911.1:p.Ala12Gly
ENST00000444573.1:c.335C>G	ENSP00000392603.1:p.Ala112Gly
ENST00000485882.1:n.169C>G
ENST00000488080.5:n.561C>G
NM_001025201.3:c.632C>G	NP_001020372.2:p.Ala211Gly
NM_001206602.1:c.335C>G	NP_001193531.1:p.Ala112Gly
NM_001822.5:c.710C>G	NP_001813.1:p.Ala237Gly
NR_038133.1:n.576C>G
NM_001025201.4:c.632C>G	NP_001020372.2:p.Ala211Gly
NM_001206602.2:c.335C>G	NP_001193531.1:p.Ala112Gly
NM_001371513.1:c.710C>G	NP_001358442.1:p.Ala237Gly
NM_001371514.1:c.761C>G	NP_001358443.1:p.Ala254Gly
NM_001822.7:c.710C>G MANE Select	NP_001813.1:p.Ala237Gly
NR_038133.2:n.578C>G