Canonical Allele Identifier: CA349347765

Gene: CHN1

Linked Data

• ClinVar Variation Id: 2477403
• ClinVar RCV Id: RCV003203810
• MyVariant Identifiers: chr2:g.175689195A>G (hg19) ; chr2:g.174824467A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824467A>G , CM000664.2:g.174824467A>G	GRCh38
NC_000002.11:g.175689195A>G , CM000664.1:g.175689195A>G	GRCh37
NC_000002.10:g.175397441A>G	NCBI36
NG_012642.1:g.185976T>C
NG_012642.2:g.185976T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.304T>C	ENSP00000295497.7:p.Trp102Arg
ENST00000444394.7:c.304T>C	ENSP00000411911.2:p.Trp102Arg
ENST00000295497.12:c.304T>C	ENSP00000295497.7:p.Trp102Arg
ENST00000409089.7:c.4T>C	ENSP00000386322.3:p.Trp2Arg
ENST00000409900.9:c.679T>C MANE Select	ENSP00000386741.4:p.Trp227Arg
ENST00000413882.6:c.133T>C	ENSP00000410496.2:p.Trp45Arg
ENST00000425395.6:c.*126T>C	ENSP00000405270.2:n.*126T>C
ENST00000443238.6:c.157T>C	ENSP00000409798.2:p.Trp53Arg
ENST00000444394.6:c.304T>C	ENSP00000411911.2:p.Trp102Arg
ENST00000444573.2:c.523T>C	ENSP00000392603.2:p.Trp175Arg
ENST00000488080.6:n.322T>C
ENST00000650731.1:c.4T>C	ENSP00000499146.1:p.Trp2Arg
ENST00000650938.1:c.203T>C
ENST00000651246.1:c.271T>C	ENSP00000498484.1:p.Trp91Arg
ENST00000651373.1:c.193T>C	ENSP00000499174.1:p.Trp65Arg
ENST00000651501.1:c.*126T>C	ENSP00000498894.1:n.*126T>C
ENST00000651717.1:c.253-11985T>C	ENSP00000499124.1:n.253-11985T>C
ENST00000652036.1:c.304T>C	ENSP00000499139.1:p.Trp102Arg
ENST00000652154.1:n.577T>C
ENST00000295497.11:c.304T>C	ENSP00000295497.7:p.Trp102Arg
ENST00000409089.6:c.4T>C	ENSP00000386322.2:p.Trp2Arg
ENST00000409156.7:c.601T>C	ENSP00000386470.3:p.Trp201Arg
ENST00000409597.5:c.127T>C	ENSP00000386469.1:p.Trp43Arg
ENST00000409900.7:c.679T>C	ENSP00000386741.3:p.Trp227Arg
ENST00000413882.5:c.133T>C	ENSP00000410496.1:p.Trp45Arg
ENST00000425395.5:c.*230T>C	ENSP00000405270.1:n.*230T>C
ENST00000443238.5:c.157T>C	ENSP00000409798.1:p.Trp53Arg
ENST00000444394.5:c.4T>C	ENSP00000411911.1:p.Trp2Arg
ENST00000444573.1:c.304T>C	ENSP00000392603.1:p.Trp102Arg
ENST00000485882.1:n.138T>C
ENST00000488080.5:n.530T>C
NM_001025201.3:c.601T>C	NP_001020372.2:p.Trp201Arg
NM_001206602.1:c.304T>C	NP_001193531.1:p.Trp102Arg
NM_001822.5:c.679T>C	NP_001813.1:p.Trp227Arg
NR_038133.1:n.545T>C
NM_001025201.4:c.601T>C	NP_001020372.2:p.Trp201Arg
NM_001206602.2:c.304T>C	NP_001193531.1:p.Trp102Arg
NM_001371513.1:c.679T>C	NP_001358442.1:p.Trp227Arg
NM_001371514.1:c.730T>C	NP_001358443.1:p.Trp244Arg
NM_001822.7:c.679T>C MANE Select	NP_001813.1:p.Trp227Arg
NR_038133.2:n.547T>C