Canonical Allele Identifier: CA349347939

Gene: CHN1

Linked Data

• dbSNP Id: rs2105401837
• gnomAD v4: 2-174824507-G-T
• MyVariant Identifiers: chr2:g.175689235G>T (hg19) ; chr2:g.174824507G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824507G>T , CM000664.2:g.174824507G>T	GRCh38
NC_000002.11:g.175689235G>T , CM000664.1:g.175689235G>T	GRCh37
NC_000002.10:g.175397481G>T	NCBI36
NG_012642.1:g.185936C>A
NG_012642.2:g.185936C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.264C>A	ENSP00000295497.7:p.Phe88Leu
ENST00000444394.7:c.264C>A	ENSP00000411911.2:p.Phe88Leu
ENST00000295497.12:c.264C>A	ENSP00000295497.7:p.Phe88Leu
ENST00000409089.7:c.-37C>A	ENSP00000386322.3:n.-37C>A
ENST00000409900.9:c.639C>A MANE Select	ENSP00000386741.4:p.Phe213Leu
ENST00000413882.6:c.93C>A	ENSP00000410496.2:p.Phe31Leu
ENST00000425395.6:c.*86C>A	ENSP00000405270.2:n.*86C>A
ENST00000443238.6:c.117C>A	ENSP00000409798.2:p.Phe39Leu
ENST00000444394.6:c.264C>A	ENSP00000411911.2:p.Phe88Leu
ENST00000444573.2:c.483C>A	ENSP00000392603.2:p.Phe161Leu
ENST00000451799.2:c.483C>A	ENSP00000416316.2:p.Phe161Leu
ENST00000469597.2:c.*287C>A	ENSP00000498417.1:n.*287C>A
ENST00000488080.6:n.282C>A
ENST00000650731.1:c.-37C>A	ENSP00000499146.1:n.-37C>A
ENST00000650734.1:c.*539C>A	ENSP00000498742.1:n.*539C>A
ENST00000650770.1:c.*553C>A	ENSP00000499036.1:n.*553C>A
ENST00000650938.1:c.163C>A
ENST00000651246.1:c.231C>A	ENSP00000498484.1:p.Phe77Leu
ENST00000651315.1:c.231C>A	ENSP00000498692.1:p.Phe77Leu
ENST00000651373.1:c.153C>A	ENSP00000499174.1:p.Phe51Leu
ENST00000651501.1:c.*86C>A	ENSP00000498894.1:n.*86C>A
ENST00000651580.1:c.*218C>A	ENSP00000498631.1:n.*218C>A
ENST00000651599.1:c.*123C>A	ENSP00000498535.1:n.*123C>A
ENST00000651717.1:c.253-12025C>A	ENSP00000499124.1:n.253-12025C>A
ENST00000651803.1:c.*631C>A	ENSP00000499007.1:n.*631C>A
ENST00000651971.1:c.*439C>A	ENSP00000499035.1:n.*439C>A
ENST00000652036.1:c.264C>A	ENSP00000499139.1:p.Phe88Leu
ENST00000652154.1:n.537C>A
ENST00000652208.1:c.483C>A	ENSP00000498475.1:p.Phe161Leu
ENST00000652434.1:c.600C>A	ENSP00000498549.1:p.Phe200Leu
ENST00000652437.1:n.782C>A
ENST00000652674.1:c.*123C>A	ENSP00000498599.1:n.*123C>A
ENST00000652734.1:n.536C>A
ENST00000652756.1:c.483C>A	ENSP00000498281.1:p.Phe161Leu
ENST00000652768.1:n.531C>A
ENST00000295497.11:c.264C>A	ENSP00000295497.7:p.Phe88Leu
ENST00000409089.6:c.-37C>A	ENSP00000386322.2:n.-37C>A
ENST00000409156.7:c.561C>A	ENSP00000386470.3:p.Phe187Leu
ENST00000409597.5:c.87C>A	ENSP00000386469.1:p.Phe29Leu
ENST00000409900.7:c.639C>A	ENSP00000386741.3:p.Phe213Leu
ENST00000413882.5:c.93C>A	ENSP00000410496.1:p.Phe31Leu
ENST00000425395.5:c.*190C>A	ENSP00000405270.1:n.*190C>A
ENST00000443238.5:c.117C>A	ENSP00000409798.1:p.Phe39Leu
ENST00000444394.5:c.-37C>A	ENSP00000411911.1:n.-37C>A
ENST00000444573.1:c.264C>A	ENSP00000392603.1:p.Phe88Leu
ENST00000485882.1:n.98C>A
ENST00000488080.5:n.490C>A
NM_001025201.3:c.561C>A	NP_001020372.2:p.Phe187Leu
NM_001206602.1:c.264C>A	NP_001193531.1:p.Phe88Leu
NM_001822.5:c.639C>A	NP_001813.1:p.Phe213Leu
NR_038133.1:n.505C>A
NM_001025201.4:c.561C>A	NP_001020372.2:p.Phe187Leu
NM_001206602.2:c.264C>A	NP_001193531.1:p.Phe88Leu
NM_001371513.1:c.639C>A	NP_001358442.1:p.Phe213Leu
NM_001371514.1:c.690C>A	NP_001358443.1:p.Phe230Leu
NM_001822.7:c.639C>A MANE Select	NP_001813.1:p.Phe213Leu
NR_038133.2:n.507C>A