Canonical Allele Identifier: CA349347793

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175689201A>G (hg19) ; chr2:g.174824473A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824473A>G , CM000664.2:g.174824473A>G	GRCh38
NC_000002.11:g.175689201A>G , CM000664.1:g.175689201A>G	GRCh37
NC_000002.10:g.175397447A>G	NCBI36
NG_012642.1:g.185970T>C
NG_012642.2:g.185970T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.298T>C	ENSP00000295497.7:p.Phe100Leu
ENST00000444394.7:c.298T>C	ENSP00000411911.2:p.Phe100Leu
ENST00000295497.12:c.298T>C	ENSP00000295497.7:p.Phe100Leu
ENST00000409089.7:c.-3T>C	ENSP00000386322.3:n.-3T>C
ENST00000409900.9:c.673T>C MANE Select	ENSP00000386741.4:p.Phe225Leu
ENST00000413882.6:c.127T>C	ENSP00000410496.2:p.Phe43Leu
ENST00000425395.6:c.*120T>C	ENSP00000405270.2:n.*120T>C
ENST00000443238.6:c.151T>C	ENSP00000409798.2:p.Phe51Leu
ENST00000444394.6:c.298T>C	ENSP00000411911.2:p.Phe100Leu
ENST00000444573.2:c.517T>C	ENSP00000392603.2:p.Phe173Leu
ENST00000488080.6:n.316T>C
ENST00000650731.1:c.-3T>C	ENSP00000499146.1:n.-3T>C
ENST00000650938.1:c.197T>C
ENST00000651246.1:c.265T>C	ENSP00000498484.1:p.Phe89Leu
ENST00000651373.1:c.187T>C	ENSP00000499174.1:p.Phe63Leu
ENST00000651501.1:c.*120T>C	ENSP00000498894.1:n.*120T>C
ENST00000651717.1:c.253-11991T>C	ENSP00000499124.1:n.253-11991T>C
ENST00000652036.1:c.298T>C	ENSP00000499139.1:p.Phe100Leu
ENST00000652154.1:n.571T>C
ENST00000295497.11:c.298T>C	ENSP00000295497.7:p.Phe100Leu
ENST00000409089.6:c.-3T>C	ENSP00000386322.2:n.-3T>C
ENST00000409156.7:c.595T>C	ENSP00000386470.3:p.Phe199Leu
ENST00000409597.5:c.121T>C	ENSP00000386469.1:p.Phe41Leu
ENST00000409900.7:c.673T>C	ENSP00000386741.3:p.Phe225Leu
ENST00000413882.5:c.127T>C	ENSP00000410496.1:p.Phe43Leu
ENST00000425395.5:c.*224T>C	ENSP00000405270.1:n.*224T>C
ENST00000443238.5:c.151T>C	ENSP00000409798.1:p.Phe51Leu
ENST00000444394.5:c.-3T>C	ENSP00000411911.1:n.-3T>C
ENST00000444573.1:c.298T>C	ENSP00000392603.1:p.Phe100Leu
ENST00000485882.1:n.132T>C
ENST00000488080.5:n.524T>C
NM_001025201.3:c.595T>C	NP_001020372.2:p.Phe199Leu
NM_001206602.1:c.298T>C	NP_001193531.1:p.Phe100Leu
NM_001822.5:c.673T>C	NP_001813.1:p.Phe225Leu
NR_038133.1:n.539T>C
NM_001025201.4:c.595T>C	NP_001020372.2:p.Phe199Leu
NM_001206602.2:c.298T>C	NP_001193531.1:p.Phe100Leu
NM_001371513.1:c.673T>C	NP_001358442.1:p.Phe225Leu
NM_001371514.1:c.724T>C	NP_001358443.1:p.Phe242Leu
NM_001822.7:c.673T>C MANE Select	NP_001813.1:p.Phe225Leu
NR_038133.2:n.541T>C