Canonical Allele Identifier: CA349342666

Gene: CHN1

Linked Data

• gnomAD v4: 2-174800270-T-C
• MyVariant Identifiers: chr2:g.175664998T>C (hg19) ; chr2:g.174800270T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800270T>C , CM000664.2:g.174800270T>C	GRCh38
NC_000002.11:g.175664998T>C , CM000664.1:g.175664998T>C	GRCh37
NC_000002.10:g.175373244T>C	NCBI36
NG_012642.1:g.210173A>G
NG_012642.2:g.210173A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.851A>G	ENSP00000295497.7:p.Lys284Arg
ENST00000295497.12:c.851A>G	ENSP00000295497.7:p.Lys284Arg
ENST00000409089.7:c.602A>G	ENSP00000386322.3:p.Lys201Arg
ENST00000409900.9:c.1226A>G MANE Select	ENSP00000386741.4:p.Lys409Arg
ENST00000413882.6:c.680A>G	ENSP00000410496.2:p.Lys227Arg
ENST00000443238.6:c.704A>G	ENSP00000409798.2:p.Lys235Arg
ENST00000488080.6:n.869A>G
ENST00000650731.1:c.551A>G	ENSP00000499146.1:p.Lys184Arg
ENST00000650938.1:c.612A>G
ENST00000651246.1:c.818A>G	ENSP00000498484.1:p.Lys273Arg
ENST00000651501.1:c.*673A>G	ENSP00000498894.1:n.*673A>G
ENST00000651717.1:c.*502A>G	ENSP00000499124.1:n.*502A>G
ENST00000652036.1:c.902A>G	ENSP00000499139.1:p.Lys301Arg
ENST00000295497.11:c.851A>G	ENSP00000295497.7:p.Lys284Arg
ENST00000409156.7:c.1148A>G	ENSP00000386470.3:p.Lys383Arg
ENST00000409597.5:c.674A>G	ENSP00000386469.1:p.Lys225Arg
ENST00000409900.7:c.1226A>G	ENSP00000386741.3:p.Lys409Arg
ENST00000488080.5:n.1077A>G
ENST00000492964.1:n.369A>G
NM_001025201.3:c.1148A>G	NP_001020372.2:p.Lys383Arg
NM_001206602.1:c.851A>G	NP_001193531.1:p.Lys284Arg
NM_001822.5:c.1226A>G	NP_001813.1:p.Lys409Arg
NR_038133.1:n.1092A>G
NM_001025201.4:c.1148A>G	NP_001020372.2:p.Lys383Arg
NM_001206602.2:c.851A>G	NP_001193531.1:p.Lys284Arg
NM_001371513.1:c.1226A>G	NP_001358442.1:p.Lys409Arg
NM_001371514.1:c.1277A>G	NP_001358443.1:p.Lys426Arg
NM_001822.7:c.1226A>G MANE Select	NP_001813.1:p.Lys409Arg
NR_038133.2:n.1094A>G