Canonical Allele Identifier: CA349342598

Gene: CHN1

Linked Data

• dbSNP Id: rs1684677161
• MyVariant Identifiers: chr2:g.175664990G>C (hg19) ; chr2:g.174800262G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800262G>C , CM000664.2:g.174800262G>C	GRCh38
NC_000002.11:g.175664990G>C , CM000664.1:g.175664990G>C	GRCh37
NC_000002.10:g.175373236G>C	NCBI36
NG_012642.1:g.210181C>G
NG_012642.2:g.210181C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.859C>G	ENSP00000295497.7:p.Leu287Val
ENST00000295497.12:c.859C>G	ENSP00000295497.7:p.Leu287Val
ENST00000409089.7:c.610C>G	ENSP00000386322.3:p.Leu204Val
ENST00000409900.9:c.1234C>G MANE Select	ENSP00000386741.4:p.Leu412Val
ENST00000413882.6:c.688C>G	ENSP00000410496.2:p.Leu230Val
ENST00000443238.6:c.712C>G	ENSP00000409798.2:p.Leu238Val
ENST00000488080.6:n.877C>G
ENST00000650731.1:c.559C>G	ENSP00000499146.1:p.Leu187Val
ENST00000650938.1:c.620C>G
ENST00000651246.1:c.826C>G	ENSP00000498484.1:p.Leu276Val
ENST00000651501.1:c.*681C>G	ENSP00000498894.1:n.*681C>G
ENST00000651717.1:c.*510C>G	ENSP00000499124.1:n.*510C>G
ENST00000652036.1:c.910C>G	ENSP00000499139.1:p.Leu304Val
ENST00000295497.11:c.859C>G	ENSP00000295497.7:p.Leu287Val
ENST00000409156.7:c.1156C>G	ENSP00000386470.3:p.Leu386Val
ENST00000409597.5:c.682C>G	ENSP00000386469.1:p.Leu228Val
ENST00000409900.7:c.1234C>G	ENSP00000386741.3:p.Leu412Val
ENST00000488080.5:n.1085C>G
ENST00000492964.1:n.377C>G
NM_001025201.3:c.1156C>G	NP_001020372.2:p.Leu386Val
NM_001206602.1:c.859C>G	NP_001193531.1:p.Leu287Val
NM_001822.5:c.1234C>G	NP_001813.1:p.Leu412Val
NR_038133.1:n.1100C>G
NM_001025201.4:c.1156C>G	NP_001020372.2:p.Leu386Val
NM_001206602.2:c.859C>G	NP_001193531.1:p.Leu287Val
NM_001371513.1:c.1234C>G	NP_001358442.1:p.Leu412Val
NM_001371514.1:c.1285C>G	NP_001358443.1:p.Leu429Val
NM_001822.7:c.1234C>G MANE Select	NP_001813.1:p.Leu412Val
NR_038133.2:n.1102C>G