Canonical Allele Identifier: CA349341896

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664861C>G (hg19) ; chr2:g.174800133C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800133C>G , CM000664.2:g.174800133C>G	GRCh38
NC_000002.11:g.175664861C>G , CM000664.1:g.175664861C>G	GRCh37
NC_000002.10:g.175373107C>G	NCBI36
NG_012642.1:g.210310G>C
NG_012642.2:g.210310G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.988G>C	ENSP00000295497.7:p.Glu330Gln
ENST00000295497.12:c.988G>C	ENSP00000295497.7:p.Glu330Gln
ENST00000409900.9:c.1363G>C MANE Select	ENSP00000386741.4:p.Glu455Gln
ENST00000413882.6:c.817G>C	ENSP00000410496.2:p.Glu273Gln
ENST00000443238.6:c.841G>C	ENSP00000409798.2:p.Glu281Gln
ENST00000488080.6:n.1006G>C
ENST00000650731.1:c.688G>C	ENSP00000499146.1:p.Glu230Gln
ENST00000650938.1:c.749G>C
ENST00000651246.1:c.955G>C	ENSP00000498484.1:p.Glu319Gln
ENST00000651501.1:c.*810G>C	ENSP00000498894.1:n.*810G>C
ENST00000651717.1:c.*639G>C	ENSP00000499124.1:n.*639G>C
ENST00000652036.1:c.1039G>C	ENSP00000499139.1:p.Glu347Gln
ENST00000295497.11:c.988G>C	ENSP00000295497.7:p.Glu330Gln
ENST00000409156.7:c.1285G>C	ENSP00000386470.3:p.Glu429Gln
ENST00000409597.5:c.811G>C	ENSP00000386469.1:p.Glu271Gln
ENST00000409900.7:c.1363G>C	ENSP00000386741.3:p.Glu455Gln
ENST00000488080.5:n.1214G>C
ENST00000492964.1:n.506G>C
NM_001025201.3:c.1285G>C	NP_001020372.2:p.Glu429Gln
NM_001206602.1:c.988G>C	NP_001193531.1:p.Glu330Gln
NM_001822.5:c.1363G>C	NP_001813.1:p.Glu455Gln
NR_038133.1:n.1229G>C
NM_001025201.4:c.1285G>C	NP_001020372.2:p.Glu429Gln
NM_001206602.2:c.988G>C	NP_001193531.1:p.Glu330Gln
NM_001371513.1:c.1363G>C	NP_001358442.1:p.Glu455Gln
NM_001371514.1:c.1414G>C	NP_001358443.1:p.Glu472Gln
NM_001822.7:c.1363G>C MANE Select	NP_001813.1:p.Glu455Gln
NR_038133.2:n.1231G>C