Canonical Allele Identifier: CA349347714

Gene: CHN1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.319C>T	ENSP00000295497.7:p.Gln107Ter
ENST00000444394.7:c.319C>T	ENSP00000411911.2:p.Gln107Ter
ENST00000295497.12:c.319C>T	ENSP00000295497.7:p.Gln107Ter
ENST00000409089.7:c.19C>T	ENSP00000386322.3:p.Gln7Ter
ENST00000409900.9:c.694C>T MANE Select	ENSP00000386741.4:p.Gln232Ter
ENST00000413882.6:c.148C>T	ENSP00000410496.2:p.Gln50Ter
ENST00000425395.6:c.*141C>T	ENSP00000405270.2:n.*141C>T
ENST00000443238.6:c.172C>T	ENSP00000409798.2:p.Gln58Ter
ENST00000444394.6:c.319C>T	ENSP00000411911.2:p.Gln107Ter
ENST00000444573.2:c.538C>T	ENSP00000392603.2:p.Gln180Ter
ENST00000488080.6:n.337C>T
ENST00000650731.1:c.19C>T	ENSP00000499146.1:p.Gln7Ter
ENST00000650938.1:c.218C>T
ENST00000651246.1:c.286C>T	ENSP00000498484.1:p.Gln96Ter
ENST00000651373.1:c.208C>T	ENSP00000499174.1:p.Gln70Ter
ENST00000651501.1:c.*141C>T	ENSP00000498894.1:n.*141C>T
ENST00000651717.1:c.253-11970C>T	ENSP00000499124.1:n.253-11970C>T
ENST00000652036.1:c.319C>T	ENSP00000499139.1:p.Gln107Ter
ENST00000652154.1:n.592C>T
ENST00000295497.11:c.319C>T	ENSP00000295497.7:p.Gln107Ter
ENST00000409089.6:c.19C>T	ENSP00000386322.2:p.Gln7Ter
ENST00000409156.7:c.616C>T	ENSP00000386470.3:p.Gln206Ter
ENST00000409597.5:c.142C>T	ENSP00000386469.1:p.Gln48Ter
ENST00000409900.7:c.694C>T	ENSP00000386741.3:p.Gln232Ter
ENST00000413882.5:c.148C>T	ENSP00000410496.1:p.Gln50Ter
ENST00000425395.5:c.*245C>T	ENSP00000405270.1:n.*245C>T
ENST00000443238.5:c.172C>T	ENSP00000409798.1:p.Gln58Ter
ENST00000444394.5:c.19C>T	ENSP00000411911.1:p.Gln7Ter
ENST00000444573.1:c.319C>T	ENSP00000392603.1:p.Gln107Ter
ENST00000485882.1:n.153C>T
ENST00000488080.5:n.545C>T
NM_001025201.3:c.616C>T	NP_001020372.2:p.Gln206Ter
NM_001206602.1:c.319C>T	NP_001193531.1:p.Gln107Ter
NM_001822.5:c.694C>T	NP_001813.1:p.Gln232Ter
NR_038133.1:n.560C>T
NM_001025201.4:c.616C>T	NP_001020372.2:p.Gln206Ter
NM_001206602.2:c.319C>T	NP_001193531.1:p.Gln107Ter
NM_001371513.1:c.694C>T	NP_001358442.1:p.Gln232Ter
NM_001371514.1:c.745C>T	NP_001358443.1:p.Gln249Ter
NM_001822.7:c.694C>T MANE Select	NP_001813.1:p.Gln232Ter
NR_038133.2:n.562C>T