Canonical Allele Identifier: CA349341957

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664873G>C (hg19) ; chr2:g.174800145G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800145G>C , CM000664.2:g.174800145G>C	GRCh38
NC_000002.11:g.175664873G>C , CM000664.1:g.175664873G>C	GRCh37
NC_000002.10:g.175373119G>C	NCBI36
NG_012642.1:g.210298C>G
NG_012642.2:g.210298C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.976C>G	ENSP00000295497.7:p.Leu326Val
ENST00000295497.12:c.976C>G	ENSP00000295497.7:p.Leu326Val
ENST00000409900.9:c.1351C>G MANE Select	ENSP00000386741.4:p.Leu451Val
ENST00000413882.6:c.805C>G	ENSP00000410496.2:p.Leu269Val
ENST00000443238.6:c.829C>G	ENSP00000409798.2:p.Leu277Val
ENST00000488080.6:n.994C>G
ENST00000650731.1:c.676C>G	ENSP00000499146.1:p.Leu226Val
ENST00000650938.1:c.737C>G
ENST00000651246.1:c.943C>G	ENSP00000498484.1:p.Leu315Val
ENST00000651501.1:c.*798C>G	ENSP00000498894.1:n.*798C>G
ENST00000651717.1:c.*627C>G	ENSP00000499124.1:n.*627C>G
ENST00000652036.1:c.1027C>G	ENSP00000499139.1:p.Leu343Val
ENST00000295497.11:c.976C>G	ENSP00000295497.7:p.Leu326Val
ENST00000409156.7:c.1273C>G	ENSP00000386470.3:p.Leu425Val
ENST00000409597.5:c.799C>G	ENSP00000386469.1:p.Leu267Val
ENST00000409900.7:c.1351C>G	ENSP00000386741.3:p.Leu451Val
ENST00000488080.5:n.1202C>G
ENST00000492964.1:n.494C>G
NM_001025201.3:c.1273C>G	NP_001020372.2:p.Leu425Val
NM_001206602.1:c.976C>G	NP_001193531.1:p.Leu326Val
NM_001822.5:c.1351C>G	NP_001813.1:p.Leu451Val
NR_038133.1:n.1217C>G
NM_001025201.4:c.1273C>G	NP_001020372.2:p.Leu425Val
NM_001206602.2:c.976C>G	NP_001193531.1:p.Leu326Val
NM_001371513.1:c.1351C>G	NP_001358442.1:p.Leu451Val
NM_001371514.1:c.1402C>G	NP_001358443.1:p.Leu468Val
NM_001822.7:c.1351C>G MANE Select	NP_001813.1:p.Leu451Val
NR_038133.2:n.1219C>G