Canonical Allele Identifier: CA258039

Gene: CHN1

Linked Data

• ClinVar Variation Id: 17555
• ClinVar RCV Id: RCV000019110
• dbSNP Id: rs121912797
• MyVariant Identifiers: chr2:g.175677168G>T (hg19) ; chr2:g.174812440G>T (hg38)
• PubMed: PMID:10577917 ; PMID:18653847

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174812440G>T , CM000664.2:g.174812440G>T	GRCh38
NC_000002.11:g.175677168G>T , CM000664.1:g.175677168G>T	GRCh37
NC_000002.10:g.175385414G>T	NCBI36
NG_012642.1:g.198003C>A
NG_012642.2:g.198003C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.380C>A	ENSP00000295497.7:p.Pro127Gln
ENST00000444394.7:c.380C>A	ENSP00000411911.2:p.Pro127Gln
ENST00000295497.12:c.380C>A	ENSP00000295497.7:p.Pro127Gln
ENST00000409089.7:c.131C>A	ENSP00000386322.3:p.Pro44Gln
ENST00000409900.9:c.755C>A MANE Select	ENSP00000386741.4:p.Pro252Gln
ENST00000413882.6:c.209C>A	ENSP00000410496.2:p.Pro70Gln
ENST00000425395.6:c.*202C>A	ENSP00000405270.2:n.*202C>A
ENST00000443238.6:c.233C>A	ENSP00000409798.2:p.Pro78Gln
ENST00000444394.6:c.380C>A	ENSP00000411911.2:p.Pro127Gln
ENST00000444573.2:c.650C>A	ENSP00000392603.2:p.Pro217Gln
ENST00000488080.6:n.398C>A
ENST00000650731.1:c.80C>A	ENSP00000499146.1:p.Pro27Gln
ENST00000650938.1:c.279C>A
ENST00000651246.1:c.347C>A	ENSP00000498484.1:p.Pro116Gln
ENST00000651501.1:c.*202C>A	ENSP00000498894.1:n.*202C>A
ENST00000651717.1:c.*31C>A	ENSP00000499124.1:n.*31C>A
ENST00000652036.1:c.431C>A	ENSP00000499139.1:p.Pro144Gln
ENST00000295497.11:c.380C>A	ENSP00000295497.7:p.Pro127Gln
ENST00000409089.6:c.131C>A	ENSP00000386322.2:p.Pro44Gln
ENST00000409156.7:c.677C>A	ENSP00000386470.3:p.Pro226Gln
ENST00000409597.5:c.203C>A	ENSP00000386469.1:p.Pro68Gln
ENST00000409900.7:c.755C>A	ENSP00000386741.3:p.Pro252Gln
ENST00000413882.5:c.209C>A	ENSP00000410496.1:p.Pro70Gln
ENST00000425395.5:c.*306C>A	ENSP00000405270.1:n.*306C>A
ENST00000443238.5:c.233C>A	ENSP00000409798.1:p.Pro78Gln
ENST00000444394.5:c.80C>A	ENSP00000411911.1:p.Pro27Gln
ENST00000444573.1:c.431C>A	ENSP00000392603.1:p.Pro144Gln
ENST00000485882.1:n.214C>A
ENST00000488080.5:n.606C>A
NM_001025201.3:c.677C>A	NP_001020372.2:p.Pro226Gln
NM_001206602.1:c.380C>A	NP_001193531.1:p.Pro127Gln
NM_001822.5:c.755C>A	NP_001813.1:p.Pro252Gln
NR_038133.1:n.621C>A
NM_001025201.4:c.677C>A	NP_001020372.2:p.Pro226Gln
NM_001206602.2:c.380C>A	NP_001193531.1:p.Pro127Gln
NM_001371513.1:c.755C>A	NP_001358442.1:p.Pro252Gln
NM_001371514.1:c.806C>A	NP_001358443.1:p.Pro269Gln
NM_001822.7:c.755C>A MANE Select	NP_001813.1:p.Pro252Gln
NR_038133.2:n.623C>A