Canonical Allele Identifier: CA349342124

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664904A>C (hg19) ; chr2:g.174800176A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800176A>C , CM000664.2:g.174800176A>C	GRCh38
NC_000002.11:g.175664904A>C , CM000664.1:g.175664904A>C	GRCh37
NC_000002.10:g.175373150A>C	NCBI36
NG_012642.1:g.210267T>G
NG_012642.2:g.210267T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.945T>G	ENSP00000295497.7:p.Asp315Glu
ENST00000295497.12:c.945T>G	ENSP00000295497.7:p.Asp315Glu
ENST00000409900.9:c.1320T>G MANE Select	ENSP00000386741.4:p.Asp440Glu
ENST00000413882.6:c.774T>G	ENSP00000410496.2:p.Asp258Glu
ENST00000443238.6:c.798T>G	ENSP00000409798.2:p.Asp266Glu
ENST00000488080.6:n.963T>G
ENST00000650731.1:c.645T>G	ENSP00000499146.1:p.Asp215Glu
ENST00000650938.1:c.706T>G
ENST00000651246.1:c.912T>G	ENSP00000498484.1:p.Asp304Glu
ENST00000651501.1:c.*767T>G	ENSP00000498894.1:n.*767T>G
ENST00000651717.1:c.*596T>G	ENSP00000499124.1:n.*596T>G
ENST00000652036.1:c.996T>G	ENSP00000499139.1:p.Asp332Glu
ENST00000295497.11:c.945T>G	ENSP00000295497.7:p.Asp315Glu
ENST00000409156.7:c.1242T>G	ENSP00000386470.3:p.Asp414Glu
ENST00000409597.5:c.768T>G	ENSP00000386469.1:p.Asp256Glu
ENST00000409900.7:c.1320T>G	ENSP00000386741.3:p.Asp440Glu
ENST00000488080.5:n.1171T>G
ENST00000492964.1:n.463T>G
NM_001025201.3:c.1242T>G	NP_001020372.2:p.Asp414Glu
NM_001206602.1:c.945T>G	NP_001193531.1:p.Asp315Glu
NM_001822.5:c.1320T>G	NP_001813.1:p.Asp440Glu
NR_038133.1:n.1186T>G
NM_001025201.4:c.1242T>G	NP_001020372.2:p.Asp414Glu
NM_001206602.2:c.945T>G	NP_001193531.1:p.Asp315Glu
NM_001371513.1:c.1320T>G	NP_001358442.1:p.Asp440Glu
NM_001371514.1:c.1371T>G	NP_001358443.1:p.Asp457Glu
NM_001822.7:c.1320T>G MANE Select	NP_001813.1:p.Asp440Glu
NR_038133.2:n.1188T>G