Canonical Allele Identifier: CA349342010

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664884A>C (hg19) ; chr2:g.174800156A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800156A>C , CM000664.2:g.174800156A>C	GRCh38
NC_000002.11:g.175664884A>C , CM000664.1:g.175664884A>C	GRCh37
NC_000002.10:g.175373130A>C	NCBI36
NG_012642.1:g.210287T>G
NG_012642.2:g.210287T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.965T>G	ENSP00000295497.7:p.Val322Gly
ENST00000295497.12:c.965T>G	ENSP00000295497.7:p.Val322Gly
ENST00000409900.9:c.1340T>G MANE Select	ENSP00000386741.4:p.Val447Gly
ENST00000413882.6:c.794T>G	ENSP00000410496.2:p.Val265Gly
ENST00000443238.6:c.818T>G	ENSP00000409798.2:p.Val273Gly
ENST00000488080.6:n.983T>G
ENST00000650731.1:c.665T>G	ENSP00000499146.1:p.Val222Gly
ENST00000650938.1:c.726T>G
ENST00000651246.1:c.932T>G	ENSP00000498484.1:p.Val311Gly
ENST00000651501.1:c.*787T>G	ENSP00000498894.1:n.*787T>G
ENST00000651717.1:c.*616T>G	ENSP00000499124.1:n.*616T>G
ENST00000652036.1:c.1016T>G	ENSP00000499139.1:p.Val339Gly
ENST00000295497.11:c.965T>G	ENSP00000295497.7:p.Val322Gly
ENST00000409156.7:c.1262T>G	ENSP00000386470.3:p.Val421Gly
ENST00000409597.5:c.788T>G	ENSP00000386469.1:p.Val263Gly
ENST00000409900.7:c.1340T>G	ENSP00000386741.3:p.Val447Gly
ENST00000488080.5:n.1191T>G
ENST00000492964.1:n.483T>G
NM_001025201.3:c.1262T>G	NP_001020372.2:p.Val421Gly
NM_001206602.1:c.965T>G	NP_001193531.1:p.Val322Gly
NM_001822.5:c.1340T>G	NP_001813.1:p.Val447Gly
NR_038133.1:n.1206T>G
NM_001025201.4:c.1262T>G	NP_001020372.2:p.Val421Gly
NM_001206602.2:c.965T>G	NP_001193531.1:p.Val322Gly
NM_001371513.1:c.1340T>G	NP_001358442.1:p.Val447Gly
NM_001371514.1:c.1391T>G	NP_001358443.1:p.Val464Gly
NM_001822.7:c.1340T>G MANE Select	NP_001813.1:p.Val447Gly
NR_038133.2:n.1208T>G