Canonical Allele Identifier: CA430022719

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824447-T-C
• MyVariant Identifiers: chr2:g.175689175T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824447T>C , CM000664.2:g.174824447T>C	GRCh38
NC_000002.11:g.175689175T>C , CM000664.1:g.175689175T>C	GRCh37
NC_000002.10:g.175397421T>C	NCBI36
NG_012642.1:g.185996A>G
NG_012642.2:g.185996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.324A>G	ENSP00000295497.7:p.Gly108=
ENST00000444394.7:c.324A>G	ENSP00000411911.2:p.Gly108=
ENST00000295497.12:c.324A>G	ENSP00000295497.7:p.Gly108=
ENST00000409089.7:c.24A>G	ENSP00000386322.3:p.Gly8=
ENST00000409900.9:c.699A>G MANE Select	ENSP00000386741.4:p.Gly233=
ENST00000413882.6:c.153A>G	ENSP00000410496.2:p.Gly51=
ENST00000425395.6:c.*146A>G	ENSP00000405270.2:n.*146A>G
ENST00000443238.6:c.177A>G	ENSP00000409798.2:p.Gly59=
ENST00000444394.6:c.324A>G	ENSP00000411911.2:p.Gly108=
ENST00000444573.2:c.543A>G	ENSP00000392603.2:p.Gly181=
ENST00000488080.6:n.342A>G
ENST00000650731.1:c.24A>G	ENSP00000499146.1:p.Gly8=
ENST00000650938.1:c.223A>G
ENST00000651246.1:c.291A>G	ENSP00000498484.1:p.Gly97=
ENST00000651373.1:c.213A>G	ENSP00000499174.1:p.Gly71=
ENST00000651501.1:c.*146A>G	ENSP00000498894.1:n.*146A>G
ENST00000651717.1:c.253-11965A>G	ENSP00000499124.1:n.253-11965A>G
ENST00000652036.1:c.324A>G	ENSP00000499139.1:p.Gly108=
ENST00000652154.1:n.597A>G
ENST00000295497.11:c.324A>G	ENSP00000295497.7:p.Gly108=
ENST00000409089.6:c.24A>G	ENSP00000386322.2:p.Gly8=
ENST00000409156.7:c.621A>G	ENSP00000386470.3:p.Gly207=
ENST00000409597.5:c.147A>G	ENSP00000386469.1:p.Gly49=
ENST00000409900.7:c.699A>G	ENSP00000386741.3:p.Gly233=
ENST00000413882.5:c.153A>G	ENSP00000410496.1:p.Gly51=
ENST00000425395.5:c.*250A>G	ENSP00000405270.1:n.*250A>G
ENST00000443238.5:c.177A>G	ENSP00000409798.1:p.Gly59=
ENST00000444394.5:c.24A>G	ENSP00000411911.1:p.Gly8=
ENST00000444573.1:c.324A>G	ENSP00000392603.1:p.Gly108=
ENST00000485882.1:n.158A>G
ENST00000488080.5:n.550A>G
NM_001025201.3:c.621A>G	NP_001020372.2:p.Gly207=
NM_001206602.1:c.324A>G	NP_001193531.1:p.Gly108=
NM_001822.5:c.699A>G	NP_001813.1:p.Gly233=
NR_038133.1:n.565A>G
NM_001025201.4:c.621A>G	NP_001020372.2:p.Gly207=
NM_001206602.2:c.324A>G	NP_001193531.1:p.Gly108=
NM_001371513.1:c.699A>G	NP_001358442.1:p.Gly233=
NM_001371514.1:c.750A>G	NP_001358443.1:p.Gly250=
NM_001822.7:c.699A>G MANE Select	NP_001813.1:p.Gly233=
NR_038133.2:n.567A>G