Canonical Allele Identifier: CA349347978

Gene: CHN1

Linked Data

• gnomAD v3: 2-174824518-C-A
• gnomAD v4: 2-174824518-C-A
• MyVariant Identifiers: chr2:g.175689246C>A (hg19) ; chr2:g.174824518C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824518C>A , CM000664.2:g.174824518C>A	GRCh38
NC_000002.11:g.175689246C>A , CM000664.1:g.175689246C>A	GRCh37
NC_000002.10:g.175397492C>A	NCBI36
NG_012642.1:g.185925G>T
NG_012642.2:g.185925G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.253G>T	ENSP00000295497.7:p.Val85Leu
ENST00000444394.7:c.253G>T	ENSP00000411911.2:p.Val85Leu
ENST00000295497.12:c.253G>T	ENSP00000295497.7:p.Val85Leu
ENST00000409089.7:c.-48G>T	ENSP00000386322.3:n.-48G>T
ENST00000409900.9:c.628G>T MANE Select	ENSP00000386741.4:p.Val210Leu
ENST00000413882.6:c.82G>T	ENSP00000410496.2:p.Val28Leu
ENST00000425395.6:c.*75G>T	ENSP00000405270.2:n.*75G>T
ENST00000443238.6:c.106G>T	ENSP00000409798.2:p.Val36Leu
ENST00000444394.6:c.253G>T	ENSP00000411911.2:p.Val85Leu
ENST00000444573.2:c.472G>T	ENSP00000392603.2:p.Val158Leu
ENST00000451799.2:c.472G>T	ENSP00000416316.2:p.Val158Leu
ENST00000469597.2:c.*276G>T	ENSP00000498417.1:n.*276G>T
ENST00000488080.6:n.271G>T
ENST00000650731.1:c.-48G>T	ENSP00000499146.1:n.-48G>T
ENST00000650734.1:c.*528G>T	ENSP00000498742.1:n.*528G>T
ENST00000650770.1:c.*542G>T	ENSP00000499036.1:n.*542G>T
ENST00000650938.1:c.152G>T
ENST00000651063.1:n.679G>T
ENST00000651246.1:c.220G>T	ENSP00000498484.1:p.Val74Leu
ENST00000651315.1:c.220G>T	ENSP00000498692.1:p.Val74Leu
ENST00000651373.1:c.142G>T	ENSP00000499174.1:p.Val48Leu
ENST00000651501.1:c.*75G>T	ENSP00000498894.1:n.*75G>T
ENST00000651580.1:c.*207G>T	ENSP00000498631.1:n.*207G>T
ENST00000651599.1:c.*112G>T	ENSP00000498535.1:n.*112G>T
ENST00000651717.1:c.253-12036G>T	ENSP00000499124.1:n.253-12036G>T
ENST00000651803.1:c.*620G>T	ENSP00000499007.1:n.*620G>T
ENST00000651971.1:c.*428G>T	ENSP00000499035.1:n.*428G>T
ENST00000652036.1:c.253G>T	ENSP00000499139.1:p.Val85Leu
ENST00000652154.1:n.526G>T
ENST00000652208.1:c.472G>T	ENSP00000498475.1:p.Val158Leu
ENST00000652434.1:c.589G>T	ENSP00000498549.1:p.Val197Leu
ENST00000652437.1:n.771G>T
ENST00000652674.1:c.*112G>T	ENSP00000498599.1:n.*112G>T
ENST00000652734.1:n.525G>T
ENST00000652756.1:c.472G>T	ENSP00000498281.1:p.Val158Leu
ENST00000652768.1:n.520G>T
ENST00000295497.11:c.253G>T	ENSP00000295497.7:p.Val85Leu
ENST00000409089.6:c.-48G>T	ENSP00000386322.2:n.-48G>T
ENST00000409156.7:c.550G>T	ENSP00000386470.3:p.Val184Leu
ENST00000409597.5:c.76G>T	ENSP00000386469.1:p.Val26Leu
ENST00000409900.7:c.628G>T	ENSP00000386741.3:p.Val210Leu
ENST00000413882.5:c.82G>T	ENSP00000410496.1:p.Val28Leu
ENST00000425395.5:c.*179G>T	ENSP00000405270.1:n.*179G>T
ENST00000443238.5:c.106G>T	ENSP00000409798.1:p.Val36Leu
ENST00000444394.5:c.-48G>T	ENSP00000411911.1:n.-48G>T
ENST00000444573.1:c.253G>T	ENSP00000392603.1:p.Val85Leu
ENST00000485882.1:n.87G>T
ENST00000488080.5:n.479G>T
NM_001025201.3:c.550G>T	NP_001020372.2:p.Val184Leu
NM_001206602.1:c.253G>T	NP_001193531.1:p.Val85Leu
NM_001822.5:c.628G>T	NP_001813.1:p.Val210Leu
NR_038133.1:n.494G>T
NM_001025201.4:c.550G>T	NP_001020372.2:p.Val184Leu
NM_001206602.2:c.253G>T	NP_001193531.1:p.Val85Leu
NM_001371513.1:c.628G>T	NP_001358442.1:p.Val210Leu
NM_001371514.1:c.679G>T	NP_001358443.1:p.Val227Leu
NM_001822.7:c.628G>T MANE Select	NP_001813.1:p.Val210Leu
NR_038133.2:n.496G>T