Canonical Allele Identifier: CA349347711

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824451-T-C
• MyVariant Identifiers: chr2:g.175689179T>C (hg19) ; chr2:g.174824451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824451T>C , CM000664.2:g.174824451T>C	GRCh38
NC_000002.11:g.175689179T>C , CM000664.1:g.175689179T>C	GRCh37
NC_000002.10:g.175397425T>C	NCBI36
NG_012642.1:g.185992A>G
NG_012642.2:g.185992A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.320A>G	ENSP00000295497.7:p.Gln107Arg
ENST00000444394.7:c.320A>G	ENSP00000411911.2:p.Gln107Arg
ENST00000295497.12:c.320A>G	ENSP00000295497.7:p.Gln107Arg
ENST00000409089.7:c.20A>G	ENSP00000386322.3:p.Gln7Arg
ENST00000409900.9:c.695A>G MANE Select	ENSP00000386741.4:p.Gln232Arg
ENST00000413882.6:c.149A>G	ENSP00000410496.2:p.Gln50Arg
ENST00000425395.6:c.*142A>G	ENSP00000405270.2:n.*142A>G
ENST00000443238.6:c.173A>G	ENSP00000409798.2:p.Gln58Arg
ENST00000444394.6:c.320A>G	ENSP00000411911.2:p.Gln107Arg
ENST00000444573.2:c.539A>G	ENSP00000392603.2:p.Gln180Arg
ENST00000488080.6:n.338A>G
ENST00000650731.1:c.20A>G	ENSP00000499146.1:p.Gln7Arg
ENST00000650938.1:c.219A>G
ENST00000651246.1:c.287A>G	ENSP00000498484.1:p.Gln96Arg
ENST00000651373.1:c.209A>G	ENSP00000499174.1:p.Gln70Arg
ENST00000651501.1:c.*142A>G	ENSP00000498894.1:n.*142A>G
ENST00000651717.1:c.253-11969A>G	ENSP00000499124.1:n.253-11969A>G
ENST00000652036.1:c.320A>G	ENSP00000499139.1:p.Gln107Arg
ENST00000652154.1:n.593A>G
ENST00000295497.11:c.320A>G	ENSP00000295497.7:p.Gln107Arg
ENST00000409089.6:c.20A>G	ENSP00000386322.2:p.Gln7Arg
ENST00000409156.7:c.617A>G	ENSP00000386470.3:p.Gln206Arg
ENST00000409597.5:c.143A>G	ENSP00000386469.1:p.Gln48Arg
ENST00000409900.7:c.695A>G	ENSP00000386741.3:p.Gln232Arg
ENST00000413882.5:c.149A>G	ENSP00000410496.1:p.Gln50Arg
ENST00000425395.5:c.*246A>G	ENSP00000405270.1:n.*246A>G
ENST00000443238.5:c.173A>G	ENSP00000409798.1:p.Gln58Arg
ENST00000444394.5:c.20A>G	ENSP00000411911.1:p.Gln7Arg
ENST00000444573.1:c.320A>G	ENSP00000392603.1:p.Gln107Arg
ENST00000485882.1:n.154A>G
ENST00000488080.5:n.546A>G
NM_001025201.3:c.617A>G	NP_001020372.2:p.Gln206Arg
NM_001206602.1:c.320A>G	NP_001193531.1:p.Gln107Arg
NM_001822.5:c.695A>G	NP_001813.1:p.Gln232Arg
NR_038133.1:n.561A>G
NM_001025201.4:c.617A>G	NP_001020372.2:p.Gln206Arg
NM_001206602.2:c.320A>G	NP_001193531.1:p.Gln107Arg
NM_001371513.1:c.695A>G	NP_001358442.1:p.Gln232Arg
NM_001371514.1:c.746A>G	NP_001358443.1:p.Gln249Arg
NM_001822.7:c.695A>G MANE Select	NP_001813.1:p.Gln232Arg
NR_038133.2:n.563A>G