Canonical Allele Identifier: CA349341838

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664849A>C (hg19) ; chr2:g.174800121A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800121A>C , CM000664.2:g.174800121A>C	GRCh38
NC_000002.11:g.175664849A>C , CM000664.1:g.175664849A>C	GRCh37
NC_000002.10:g.175373095A>C	NCBI36
NG_012642.1:g.210322T>G
NG_012642.2:g.210322T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000295497.13:c.1000T>G	ENSP00000295497.7:p.Phe334Val
ENST00000295497.12:c.1000T>G	ENSP00000295497.7:p.Phe334Val
ENST00000409900.9:c.1375T>G MANE Select	ENSP00000386741.4:p.Phe459Val
ENST00000413882.6:c.829T>G	ENSP00000410496.2:p.Phe277Val
ENST00000443238.6:c.853T>G	ENSP00000409798.2:p.Phe285Val
ENST00000488080.6:n.1018T>G
ENST00000650731.1:c.700T>G	ENSP00000499146.1:p.Phe234Val
ENST00000650938.1:c.761T>G
ENST00000651246.1:c.967T>G	ENSP00000498484.1:p.Phe323Val
ENST00000651501.1:c.*822T>G	ENSP00000498894.1:n.*822T>G
ENST00000651717.1:c.*651T>G	ENSP00000499124.1:n.*651T>G
ENST00000652036.1:c.1051T>G	ENSP00000499139.1:p.Phe351Val
ENST00000295497.11:c.1000T>G	ENSP00000295497.7:p.Phe334Val
ENST00000409156.7:c.1297T>G	ENSP00000386470.3:p.Phe433Val
ENST00000409597.5:c.823T>G	ENSP00000386469.1:p.Phe275Val
ENST00000409900.7:c.1375T>G	ENSP00000386741.3:p.Phe459Val
ENST00000488080.5:n.1226T>G
ENST00000492964.1:n.518T>G
NM_001025201.3:c.1297T>G	NP_001020372.2:p.Phe433Val
NM_001206602.1:c.1000T>G	NP_001193531.1:p.Phe334Val
NM_001822.5:c.1375T>G	NP_001813.1:p.Phe459Val
NR_038133.1:n.1241T>G
NM_001025201.4:c.1297T>G	NP_001020372.2:p.Phe433Val
NM_001206602.2:c.1000T>G	NP_001193531.1:p.Phe334Val
NM_001371513.1:c.1375T>G	NP_001358442.1:p.Phe459Val
NM_001371514.1:c.1426T>G	NP_001358443.1:p.Phe476Val
NM_001822.7:c.1375T>G MANE Select	NP_001813.1:p.Phe459Val
NR_038133.2:n.1243T>G