Canonical Allele Identifier: CA349689810

Gene: CHN1

Linked Data

• dbSNP Id: rs1378823368
• gnomAD v2: 2-175742758-C-A
• gnomAD v4: 2-174878030-C-A
• MyVariant Identifiers: chr2:g.175742758C>A (hg19) ; chr2:g.174878030C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174878030C>A , CM000664.2:g.174878030C>A	GRCh38
NC_000002.11:g.175742758C>A , CM000664.1:g.175742758C>A	GRCh37
NC_000002.10:g.175451004C>A	NCBI36
NG_012642.1:g.132413G>T
NG_012642.2:g.132413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409900.9:c.359G>T MANE Select	ENSP00000386741.4:p.Gly120Val
ENST00000425395.6:c.105-31073G>T	ENSP00000405270.2:n.105-31073G>T
ENST00000444573.2:c.203G>T	ENSP00000392603.2:p.Gly68Val
ENST00000451799.2:c.203G>T	ENSP00000416316.2:p.Gly68Val
ENST00000469597.2:c.*7G>T	ENSP00000498417.1:n.*7G>T
ENST00000488080.6:n.115-2165G>T
ENST00000650734.1:c.*259G>T	ENSP00000498742.1:n.*259G>T
ENST00000650770.1:c.*273G>T	ENSP00000499036.1:n.*273G>T
ENST00000651063.1:n.410G>T
ENST00000651246.1:c.-50G>T	ENSP00000498484.1:n.-50G>T
ENST00000651315.1:c.-50G>T	ENSP00000498692.1:n.-50G>T
ENST00000651373.1:c.-50G>T	ENSP00000499174.1:n.-50G>T
ENST00000651501.1:c.105-31073G>T	ENSP00000498894.1:n.105-31073G>T
ENST00000651580.1:c.203G>T	ENSP00000498631.1:p.Gly68Val
ENST00000651599.1:c.203G>T	ENSP00000498535.1:p.Gly68Val
ENST00000651803.1:c.*273G>T	ENSP00000499007.1:n.*273G>T
ENST00000651971.1:c.*159G>T	ENSP00000499035.1:n.*159G>T
ENST00000652154.1:n.335G>T
ENST00000652208.1:c.203G>T	ENSP00000498475.1:p.Gly68Val
ENST00000652434.1:c.320G>T	ENSP00000498549.1:p.Gly107Val
ENST00000652437.1:n.502G>T
ENST00000652674.1:c.-50G>T	ENSP00000498599.1:n.-50G>T
ENST00000652734.1:n.256G>T
ENST00000652756.1:c.203G>T	ENSP00000498281.1:p.Gly68Val
ENST00000652768.1:n.251G>T
ENST00000409156.7:c.359G>T	ENSP00000386470.3:p.Gly120Val
ENST00000409900.7:c.359G>T	ENSP00000386741.3:p.Gly120Val
ENST00000425395.5:c.*101-31073G>T	ENSP00000405270.1:n.*101-31073G>T
ENST00000469597.1:n.464G>T
ENST00000488080.5:n.401-31073G>T
ENST00000490654.1:n.334G>T
NM_001025201.3:c.359G>T	NP_001020372.2:p.Gly120Val
NM_001822.5:c.359G>T	NP_001813.1:p.Gly120Val
NR_038133.1:n.416-31073G>T
NM_001025201.4:c.359G>T	NP_001020372.2:p.Gly120Val
NM_001371513.1:c.359G>T	NP_001358442.1:p.Gly120Val
NM_001371514.1:c.410G>T	NP_001358443.1:p.Gly137Val
NM_001822.7:c.359G>T MANE Select	NP_001813.1:p.Gly120Val
NR_038133.2:n.418-31073G>T