Canonical Allele Identifier: CA349342469

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664969C>T (hg19) ; chr2:g.174800241C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800241C>T , CM000664.2:g.174800241C>T	GRCh38
NC_000002.11:g.175664969C>T , CM000664.1:g.175664969C>T	GRCh37
NC_000002.10:g.175373215C>T	NCBI36
NG_012642.1:g.210202G>A
NG_012642.2:g.210202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.880G>A	ENSP00000295497.7:p.Gly294Arg
ENST00000295497.12:c.880G>A	ENSP00000295497.7:p.Gly294Arg
ENST00000409900.9:c.1255G>A MANE Select	ENSP00000386741.4:p.Gly419Arg
ENST00000413882.6:c.709G>A	ENSP00000410496.2:p.Gly237Arg
ENST00000443238.6:c.733G>A	ENSP00000409798.2:p.Gly245Arg
ENST00000488080.6:n.898G>A
ENST00000650731.1:c.580G>A	ENSP00000499146.1:p.Gly194Arg
ENST00000650938.1:c.641G>A
ENST00000651246.1:c.847G>A	ENSP00000498484.1:p.Gly283Arg
ENST00000651501.1:c.*702G>A	ENSP00000498894.1:n.*702G>A
ENST00000651717.1:c.*531G>A	ENSP00000499124.1:n.*531G>A
ENST00000652036.1:c.931G>A	ENSP00000499139.1:p.Gly311Arg
ENST00000295497.11:c.880G>A	ENSP00000295497.7:p.Gly294Arg
ENST00000409156.7:c.1177G>A	ENSP00000386470.3:p.Gly393Arg
ENST00000409597.5:c.703G>A	ENSP00000386469.1:p.Gly235Arg
ENST00000409900.7:c.1255G>A	ENSP00000386741.3:p.Gly419Arg
ENST00000488080.5:n.1106G>A
ENST00000492964.1:n.398G>A
NM_001025201.3:c.1177G>A	NP_001020372.2:p.Gly393Arg
NM_001206602.1:c.880G>A	NP_001193531.1:p.Gly294Arg
NM_001822.5:c.1255G>A	NP_001813.1:p.Gly419Arg
NR_038133.1:n.1121G>A
NM_001025201.4:c.1177G>A	NP_001020372.2:p.Gly393Arg
NM_001206602.2:c.880G>A	NP_001193531.1:p.Gly294Arg
NM_001371513.1:c.1255G>A	NP_001358442.1:p.Gly419Arg
NM_001371514.1:c.1306G>A	NP_001358443.1:p.Gly436Arg
NM_001822.7:c.1255G>A MANE Select	NP_001813.1:p.Gly419Arg
NR_038133.2:n.1123G>A