Canonical Allele Identifier: CA349342328

Gene: CHN1

Linked Data

• dbSNP Id: rs1286230541
• gnomAD v2: 2-175664947-A-G
• gnomAD v4: 2-174800219-A-G
• MyVariant Identifiers: chr2:g.175664947A>G (hg19) ; chr2:g.174800219A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800219A>G , CM000664.2:g.174800219A>G	GRCh38
NC_000002.11:g.175664947A>G , CM000664.1:g.175664947A>G	GRCh37
NC_000002.10:g.175373193A>G	NCBI36
NG_012642.1:g.210224T>C
NG_012642.2:g.210224T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.902T>C	ENSP00000295497.7:p.Leu301Pro
ENST00000295497.12:c.902T>C	ENSP00000295497.7:p.Leu301Pro
ENST00000409900.9:c.1277T>C MANE Select	ENSP00000386741.4:p.Leu426Pro
ENST00000413882.6:c.731T>C	ENSP00000410496.2:p.Leu244Pro
ENST00000443238.6:c.755T>C	ENSP00000409798.2:p.Leu252Pro
ENST00000488080.6:n.920T>C
ENST00000650731.1:c.602T>C	ENSP00000499146.1:p.Leu201Pro
ENST00000650938.1:c.663T>C
ENST00000651246.1:c.869T>C	ENSP00000498484.1:p.Leu290Pro
ENST00000651501.1:c.*724T>C	ENSP00000498894.1:n.*724T>C
ENST00000651717.1:c.*553T>C	ENSP00000499124.1:n.*553T>C
ENST00000652036.1:c.953T>C	ENSP00000499139.1:p.Leu318Pro
ENST00000295497.11:c.902T>C	ENSP00000295497.7:p.Leu301Pro
ENST00000409156.7:c.1199T>C	ENSP00000386470.3:p.Leu400Pro
ENST00000409597.5:c.725T>C	ENSP00000386469.1:p.Leu242Pro
ENST00000409900.7:c.1277T>C	ENSP00000386741.3:p.Leu426Pro
ENST00000488080.5:n.1128T>C
ENST00000492964.1:n.420T>C
NM_001025201.3:c.1199T>C	NP_001020372.2:p.Leu400Pro
NM_001206602.1:c.902T>C	NP_001193531.1:p.Leu301Pro
NM_001822.5:c.1277T>C	NP_001813.1:p.Leu426Pro
NR_038133.1:n.1143T>C
NM_001025201.4:c.1199T>C	NP_001020372.2:p.Leu400Pro
NM_001206602.2:c.902T>C	NP_001193531.1:p.Leu301Pro
NM_001371513.1:c.1277T>C	NP_001358442.1:p.Leu426Pro
NM_001371514.1:c.1328T>C	NP_001358443.1:p.Leu443Pro
NM_001822.7:c.1277T>C MANE Select	NP_001813.1:p.Leu426Pro
NR_038133.2:n.1145T>C