Canonical Allele Identifier: CA349342525

Gene: CHN1

Linked Data

• dbSNP Id: rs1684676533
• MyVariant Identifiers: chr2:g.175664978C>G (hg19) ; chr2:g.174800250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800250C>G , CM000664.2:g.174800250C>G	GRCh38
NC_000002.11:g.175664978C>G , CM000664.1:g.175664978C>G	GRCh37
NC_000002.10:g.175373224C>G	NCBI36
NG_012642.1:g.210193G>C
NG_012642.2:g.210193G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.871G>C	ENSP00000295497.7:p.Glu291Gln
ENST00000295497.12:c.871G>C	ENSP00000295497.7:p.Glu291Gln
ENST00000409900.9:c.1246G>C MANE Select	ENSP00000386741.4:p.Glu416Gln
ENST00000413882.6:c.700G>C	ENSP00000410496.2:p.Glu234Gln
ENST00000443238.6:c.724G>C	ENSP00000409798.2:p.Glu242Gln
ENST00000488080.6:n.889G>C
ENST00000650731.1:c.571G>C	ENSP00000499146.1:p.Glu191Gln
ENST00000650938.1:c.632G>C
ENST00000651246.1:c.838G>C	ENSP00000498484.1:p.Glu280Gln
ENST00000651501.1:c.*693G>C	ENSP00000498894.1:n.*693G>C
ENST00000651717.1:c.*522G>C	ENSP00000499124.1:n.*522G>C
ENST00000652036.1:c.922G>C	ENSP00000499139.1:p.Glu308Gln
ENST00000295497.11:c.871G>C	ENSP00000295497.7:p.Glu291Gln
ENST00000409156.7:c.1168G>C	ENSP00000386470.3:p.Glu390Gln
ENST00000409597.5:c.694G>C	ENSP00000386469.1:p.Glu232Gln
ENST00000409900.7:c.1246G>C	ENSP00000386741.3:p.Glu416Gln
ENST00000488080.5:n.1097G>C
ENST00000492964.1:n.389G>C
NM_001025201.3:c.1168G>C	NP_001020372.2:p.Glu390Gln
NM_001206602.1:c.871G>C	NP_001193531.1:p.Glu291Gln
NM_001822.5:c.1246G>C	NP_001813.1:p.Glu416Gln
NR_038133.1:n.1112G>C
NM_001025201.4:c.1168G>C	NP_001020372.2:p.Glu390Gln
NM_001206602.2:c.871G>C	NP_001193531.1:p.Glu291Gln
NM_001371513.1:c.1246G>C	NP_001358442.1:p.Glu416Gln
NM_001371514.1:c.1297G>C	NP_001358443.1:p.Glu433Gln
NM_001822.7:c.1246G>C MANE Select	NP_001813.1:p.Glu416Gln
NR_038133.2:n.1114G>C