Canonical Allele Identifier: CA349347948

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824509-A-G
• MyVariant Identifiers: chr2:g.175689237A>G (hg19) ; chr2:g.174824509A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824509A>G , CM000664.2:g.174824509A>G	GRCh38
NC_000002.11:g.175689237A>G , CM000664.1:g.175689237A>G	GRCh37
NC_000002.10:g.175397483A>G	NCBI36
NG_012642.1:g.185934T>C
NG_012642.2:g.185934T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.262T>C	ENSP00000295497.7:p.Phe88Leu
ENST00000444394.7:c.262T>C	ENSP00000411911.2:p.Phe88Leu
ENST00000295497.12:c.262T>C	ENSP00000295497.7:p.Phe88Leu
ENST00000409089.7:c.-39T>C	ENSP00000386322.3:n.-39T>C
ENST00000409900.9:c.637T>C MANE Select	ENSP00000386741.4:p.Phe213Leu
ENST00000413882.6:c.91T>C	ENSP00000410496.2:p.Phe31Leu
ENST00000425395.6:c.*84T>C	ENSP00000405270.2:n.*84T>C
ENST00000443238.6:c.115T>C	ENSP00000409798.2:p.Phe39Leu
ENST00000444394.6:c.262T>C	ENSP00000411911.2:p.Phe88Leu
ENST00000444573.2:c.481T>C	ENSP00000392603.2:p.Phe161Leu
ENST00000451799.2:c.481T>C	ENSP00000416316.2:p.Phe161Leu
ENST00000469597.2:c.*285T>C	ENSP00000498417.1:n.*285T>C
ENST00000488080.6:n.280T>C
ENST00000650731.1:c.-39T>C	ENSP00000499146.1:n.-39T>C
ENST00000650734.1:c.*537T>C	ENSP00000498742.1:n.*537T>C
ENST00000650770.1:c.*551T>C	ENSP00000499036.1:n.*551T>C
ENST00000650938.1:c.161T>C
ENST00000651246.1:c.229T>C	ENSP00000498484.1:p.Phe77Leu
ENST00000651315.1:c.229T>C	ENSP00000498692.1:p.Phe77Leu
ENST00000651373.1:c.151T>C	ENSP00000499174.1:p.Phe51Leu
ENST00000651501.1:c.*84T>C	ENSP00000498894.1:n.*84T>C
ENST00000651580.1:c.*216T>C	ENSP00000498631.1:n.*216T>C
ENST00000651599.1:c.*121T>C	ENSP00000498535.1:n.*121T>C
ENST00000651717.1:c.253-12027T>C	ENSP00000499124.1:n.253-12027T>C
ENST00000651803.1:c.*629T>C	ENSP00000499007.1:n.*629T>C
ENST00000651971.1:c.*437T>C	ENSP00000499035.1:n.*437T>C
ENST00000652036.1:c.262T>C	ENSP00000499139.1:p.Phe88Leu
ENST00000652154.1:n.535T>C
ENST00000652208.1:c.481T>C	ENSP00000498475.1:p.Phe161Leu
ENST00000652434.1:c.598T>C	ENSP00000498549.1:p.Phe200Leu
ENST00000652437.1:n.780T>C
ENST00000652674.1:c.*121T>C	ENSP00000498599.1:n.*121T>C
ENST00000652734.1:n.534T>C
ENST00000652756.1:c.481T>C	ENSP00000498281.1:p.Phe161Leu
ENST00000652768.1:n.529T>C
ENST00000295497.11:c.262T>C	ENSP00000295497.7:p.Phe88Leu
ENST00000409089.6:c.-39T>C	ENSP00000386322.2:n.-39T>C
ENST00000409156.7:c.559T>C	ENSP00000386470.3:p.Phe187Leu
ENST00000409597.5:c.85T>C	ENSP00000386469.1:p.Phe29Leu
ENST00000409900.7:c.637T>C	ENSP00000386741.3:p.Phe213Leu
ENST00000413882.5:c.91T>C	ENSP00000410496.1:p.Phe31Leu
ENST00000425395.5:c.*188T>C	ENSP00000405270.1:n.*188T>C
ENST00000443238.5:c.115T>C	ENSP00000409798.1:p.Phe39Leu
ENST00000444394.5:c.-39T>C	ENSP00000411911.1:n.-39T>C
ENST00000444573.1:c.262T>C	ENSP00000392603.1:p.Phe88Leu
ENST00000485882.1:n.96T>C
ENST00000488080.5:n.488T>C
NM_001025201.3:c.559T>C	NP_001020372.2:p.Phe187Leu
NM_001206602.1:c.262T>C	NP_001193531.1:p.Phe88Leu
NM_001822.5:c.637T>C	NP_001813.1:p.Phe213Leu
NR_038133.1:n.503T>C
NM_001025201.4:c.559T>C	NP_001020372.2:p.Phe187Leu
NM_001206602.2:c.262T>C	NP_001193531.1:p.Phe88Leu
NM_001371513.1:c.637T>C	NP_001358442.1:p.Phe213Leu
NM_001371514.1:c.688T>C	NP_001358443.1:p.Phe230Leu
NM_001822.7:c.637T>C MANE Select	NP_001813.1:p.Phe213Leu
NR_038133.2:n.505T>C