Canonical Allele Identifier: CA349347676

Gene: CHN1

Linked Data

• gnomAD v4: 2-174824440-A-G
• MyVariant Identifiers: chr2:g.175689168A>G (hg19) ; chr2:g.174824440A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174824440A>G , CM000664.2:g.174824440A>G	GRCh38
NC_000002.11:g.175689168A>G , CM000664.1:g.175689168A>G	GRCh37
NC_000002.10:g.175397414A>G	NCBI36
NG_012642.1:g.186003T>C
NG_012642.2:g.186003T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.331T>C	ENSP00000295497.7:p.Cys111Arg
ENST00000444394.7:c.331T>C	ENSP00000411911.2:p.Cys111Arg
ENST00000295497.12:c.331T>C	ENSP00000295497.7:p.Cys111Arg
ENST00000409089.7:c.31T>C	ENSP00000386322.3:p.Cys11Arg
ENST00000409900.9:c.706T>C MANE Select	ENSP00000386741.4:p.Cys236Arg
ENST00000413882.6:c.160T>C	ENSP00000410496.2:p.Cys54Arg
ENST00000425395.6:c.*153T>C	ENSP00000405270.2:n.*153T>C
ENST00000443238.6:c.184T>C	ENSP00000409798.2:p.Cys62Arg
ENST00000444394.6:c.331T>C	ENSP00000411911.2:p.Cys111Arg
ENST00000444573.2:c.550T>C	ENSP00000392603.2:p.Cys184Arg
ENST00000488080.6:n.349T>C
ENST00000650731.1:c.31T>C	ENSP00000499146.1:p.Cys11Arg
ENST00000650938.1:c.230T>C
ENST00000651246.1:c.298T>C	ENSP00000498484.1:p.Cys100Arg
ENST00000651373.1:c.220T>C	ENSP00000499174.1:p.Cys74Arg
ENST00000651501.1:c.*153T>C	ENSP00000498894.1:n.*153T>C
ENST00000651717.1:c.253-11958T>C	ENSP00000499124.1:n.253-11958T>C
ENST00000652036.1:c.331T>C	ENSP00000499139.1:p.Cys111Arg
ENST00000652154.1:n.604T>C
ENST00000295497.11:c.331T>C	ENSP00000295497.7:p.Cys111Arg
ENST00000409089.6:c.31T>C	ENSP00000386322.2:p.Cys11Arg
ENST00000409156.7:c.628T>C	ENSP00000386470.3:p.Cys210Arg
ENST00000409597.5:c.154T>C	ENSP00000386469.1:p.Cys52Arg
ENST00000409900.7:c.706T>C	ENSP00000386741.3:p.Cys236Arg
ENST00000413882.5:c.160T>C	ENSP00000410496.1:p.Cys54Arg
ENST00000425395.5:c.*257T>C	ENSP00000405270.1:n.*257T>C
ENST00000443238.5:c.184T>C	ENSP00000409798.1:p.Cys62Arg
ENST00000444394.5:c.31T>C	ENSP00000411911.1:p.Cys11Arg
ENST00000444573.1:c.331T>C	ENSP00000392603.1:p.Cys111Arg
ENST00000485882.1:n.165T>C
ENST00000488080.5:n.557T>C
NM_001025201.3:c.628T>C	NP_001020372.2:p.Cys210Arg
NM_001206602.1:c.331T>C	NP_001193531.1:p.Cys111Arg
NM_001822.5:c.706T>C	NP_001813.1:p.Cys236Arg
NR_038133.1:n.572T>C
NM_001025201.4:c.628T>C	NP_001020372.2:p.Cys210Arg
NM_001206602.2:c.331T>C	NP_001193531.1:p.Cys111Arg
NM_001371513.1:c.706T>C	NP_001358442.1:p.Cys236Arg
NM_001371514.1:c.757T>C	NP_001358443.1:p.Cys253Arg
NM_001822.7:c.706T>C MANE Select	NP_001813.1:p.Cys236Arg
NR_038133.2:n.574T>C