Canonical Allele Identifier: CA349341841

Gene: CHN1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.1000T>C	ENSP00000295497.7:p.Phe334Leu
ENST00000295497.12:c.1000T>C	ENSP00000295497.7:p.Phe334Leu
ENST00000409900.9:c.1375T>C MANE Select	ENSP00000386741.4:p.Phe459Leu
ENST00000413882.6:c.829T>C	ENSP00000410496.2:p.Phe277Leu
ENST00000443238.6:c.853T>C	ENSP00000409798.2:p.Phe285Leu
ENST00000488080.6:n.1018T>C
ENST00000650731.1:c.700T>C	ENSP00000499146.1:p.Phe234Leu
ENST00000650938.1:c.761T>C
ENST00000651246.1:c.967T>C	ENSP00000498484.1:p.Phe323Leu
ENST00000651501.1:c.*822T>C	ENSP00000498894.1:n.*822T>C
ENST00000651717.1:c.*651T>C	ENSP00000499124.1:n.*651T>C
ENST00000652036.1:c.1051T>C	ENSP00000499139.1:p.Phe351Leu
ENST00000295497.11:c.1000T>C	ENSP00000295497.7:p.Phe334Leu
ENST00000409156.7:c.1297T>C	ENSP00000386470.3:p.Phe433Leu
ENST00000409597.5:c.823T>C	ENSP00000386469.1:p.Phe275Leu
ENST00000409900.7:c.1375T>C	ENSP00000386741.3:p.Phe459Leu
ENST00000488080.5:n.1226T>C
ENST00000492964.1:n.518T>C
NM_001025201.3:c.1297T>C	NP_001020372.2:p.Phe433Leu
NM_001206602.1:c.1000T>C	NP_001193531.1:p.Phe334Leu
NM_001822.5:c.1375T>C	NP_001813.1:p.Phe459Leu
NR_038133.1:n.1241T>C
NM_001025201.4:c.1297T>C	NP_001020372.2:p.Phe433Leu
NM_001206602.2:c.1000T>C	NP_001193531.1:p.Phe334Leu
NM_001371513.1:c.1375T>C	NP_001358442.1:p.Phe459Leu
NM_001371514.1:c.1426T>C	NP_001358443.1:p.Phe476Leu
NM_001822.7:c.1375T>C MANE Select	NP_001813.1:p.Phe459Leu
NR_038133.2:n.1243T>C