Canonical Allele Identifier: CA349347717

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824452-G-T
• MyVariant Identifiers: chr2:g.175689180G>T (hg19) ; chr2:g.174824452G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824452G>T , CM000664.2:g.174824452G>T	GRCh38
NC_000002.11:g.175689180G>T , CM000664.1:g.175689180G>T	GRCh37
NC_000002.10:g.175397426G>T	NCBI36
NG_012642.1:g.185991C>A
NG_012642.2:g.185991C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.319C>A	ENSP00000295497.7:p.Gln107Lys
ENST00000444394.7:c.319C>A	ENSP00000411911.2:p.Gln107Lys
ENST00000295497.12:c.319C>A	ENSP00000295497.7:p.Gln107Lys
ENST00000409089.7:c.19C>A	ENSP00000386322.3:p.Gln7Lys
ENST00000409900.9:c.694C>A MANE Select	ENSP00000386741.4:p.Gln232Lys
ENST00000413882.6:c.148C>A	ENSP00000410496.2:p.Gln50Lys
ENST00000425395.6:c.*141C>A	ENSP00000405270.2:n.*141C>A
ENST00000443238.6:c.172C>A	ENSP00000409798.2:p.Gln58Lys
ENST00000444394.6:c.319C>A	ENSP00000411911.2:p.Gln107Lys
ENST00000444573.2:c.538C>A	ENSP00000392603.2:p.Gln180Lys
ENST00000488080.6:n.337C>A
ENST00000650731.1:c.19C>A	ENSP00000499146.1:p.Gln7Lys
ENST00000650938.1:c.218C>A
ENST00000651246.1:c.286C>A	ENSP00000498484.1:p.Gln96Lys
ENST00000651373.1:c.208C>A	ENSP00000499174.1:p.Gln70Lys
ENST00000651501.1:c.*141C>A	ENSP00000498894.1:n.*141C>A
ENST00000651717.1:c.253-11970C>A	ENSP00000499124.1:n.253-11970C>A
ENST00000652036.1:c.319C>A	ENSP00000499139.1:p.Gln107Lys
ENST00000652154.1:n.592C>A
ENST00000295497.11:c.319C>A	ENSP00000295497.7:p.Gln107Lys
ENST00000409089.6:c.19C>A	ENSP00000386322.2:p.Gln7Lys
ENST00000409156.7:c.616C>A	ENSP00000386470.3:p.Gln206Lys
ENST00000409597.5:c.142C>A	ENSP00000386469.1:p.Gln48Lys
ENST00000409900.7:c.694C>A	ENSP00000386741.3:p.Gln232Lys
ENST00000413882.5:c.148C>A	ENSP00000410496.1:p.Gln50Lys
ENST00000425395.5:c.*245C>A	ENSP00000405270.1:n.*245C>A
ENST00000443238.5:c.172C>A	ENSP00000409798.1:p.Gln58Lys
ENST00000444394.5:c.19C>A	ENSP00000411911.1:p.Gln7Lys
ENST00000444573.1:c.319C>A	ENSP00000392603.1:p.Gln107Lys
ENST00000485882.1:n.153C>A
ENST00000488080.5:n.545C>A
NM_001025201.3:c.616C>A	NP_001020372.2:p.Gln206Lys
NM_001206602.1:c.319C>A	NP_001193531.1:p.Gln107Lys
NM_001822.5:c.694C>A	NP_001813.1:p.Gln232Lys
NR_038133.1:n.560C>A
NM_001025201.4:c.616C>A	NP_001020372.2:p.Gln206Lys
NM_001206602.2:c.319C>A	NP_001193531.1:p.Gln107Lys
NM_001371513.1:c.694C>A	NP_001358442.1:p.Gln232Lys
NM_001371514.1:c.745C>A	NP_001358443.1:p.Gln249Lys
NM_001822.7:c.694C>A MANE Select	NP_001813.1:p.Gln232Lys
NR_038133.2:n.562C>A