Canonical Allele Identifier: CA349342292

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664938G>C (hg19) ; chr2:g.174800210G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800210G>C , CM000664.2:g.174800210G>C	GRCh38
NC_000002.11:g.175664938G>C , CM000664.1:g.175664938G>C	GRCh37
NC_000002.10:g.175373184G>C	NCBI36
NG_012642.1:g.210233C>G
NG_012642.2:g.210233C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.911C>G	ENSP00000295497.7:p.Ser304Cys
ENST00000295497.12:c.911C>G	ENSP00000295497.7:p.Ser304Cys
ENST00000409900.9:c.1286C>G MANE Select	ENSP00000386741.4:p.Ser429Cys
ENST00000413882.6:c.740C>G	ENSP00000410496.2:p.Ser247Cys
ENST00000443238.6:c.764C>G	ENSP00000409798.2:p.Ser255Cys
ENST00000488080.6:n.929C>G
ENST00000650731.1:c.611C>G	ENSP00000499146.1:p.Ser204Cys
ENST00000650938.1:c.672C>G
ENST00000651246.1:c.878C>G	ENSP00000498484.1:p.Ser293Cys
ENST00000651501.1:c.*733C>G	ENSP00000498894.1:n.*733C>G
ENST00000651717.1:c.*562C>G	ENSP00000499124.1:n.*562C>G
ENST00000652036.1:c.962C>G	ENSP00000499139.1:p.Ser321Cys
ENST00000295497.11:c.911C>G	ENSP00000295497.7:p.Ser304Cys
ENST00000409156.7:c.1208C>G	ENSP00000386470.3:p.Ser403Cys
ENST00000409597.5:c.734C>G	ENSP00000386469.1:p.Ser245Cys
ENST00000409900.7:c.1286C>G	ENSP00000386741.3:p.Ser429Cys
ENST00000488080.5:n.1137C>G
ENST00000492964.1:n.429C>G
NM_001025201.3:c.1208C>G	NP_001020372.2:p.Ser403Cys
NM_001206602.1:c.911C>G	NP_001193531.1:p.Ser304Cys
NM_001822.5:c.1286C>G	NP_001813.1:p.Ser429Cys
NR_038133.1:n.1152C>G
NM_001025201.4:c.1208C>G	NP_001020372.2:p.Ser403Cys
NM_001206602.2:c.911C>G	NP_001193531.1:p.Ser304Cys
NM_001371513.1:c.1286C>G	NP_001358442.1:p.Ser429Cys
NM_001371514.1:c.1337C>G	NP_001358443.1:p.Ser446Cys
NM_001822.7:c.1286C>G MANE Select	NP_001813.1:p.Ser429Cys
NR_038133.2:n.1154C>G