Canonical Allele Identifier: CA349342703

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175665004T>A (hg19) ; chr2:g.174800276T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800276T>A , CM000664.2:g.174800276T>A	GRCh38
NC_000002.11:g.175665004T>A , CM000664.1:g.175665004T>A	GRCh37
NC_000002.10:g.175373250T>A	NCBI36
NG_012642.1:g.210167A>T
NG_012642.2:g.210167A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.845A>T	ENSP00000295497.7:p.His282Leu
ENST00000295497.12:c.845A>T	ENSP00000295497.7:p.His282Leu
ENST00000409089.7:c.596A>T	ENSP00000386322.3:p.His199Leu
ENST00000409900.9:c.1220A>T MANE Select	ENSP00000386741.4:p.His407Leu
ENST00000413882.6:c.674A>T	ENSP00000410496.2:p.His225Leu
ENST00000443238.6:c.698A>T	ENSP00000409798.2:p.His233Leu
ENST00000488080.6:n.863A>T
ENST00000650731.1:c.545A>T	ENSP00000499146.1:p.His182Leu
ENST00000650938.1:c.606A>T
ENST00000651246.1:c.812A>T	ENSP00000498484.1:p.His271Leu
ENST00000651501.1:c.*667A>T	ENSP00000498894.1:n.*667A>T
ENST00000651717.1:c.*496A>T	ENSP00000499124.1:n.*496A>T
ENST00000652036.1:c.896A>T	ENSP00000499139.1:p.His299Leu
ENST00000295497.11:c.845A>T	ENSP00000295497.7:p.His282Leu
ENST00000409156.7:c.1142A>T	ENSP00000386470.3:p.His381Leu
ENST00000409597.5:c.668A>T	ENSP00000386469.1:p.His223Leu
ENST00000409900.7:c.1220A>T	ENSP00000386741.3:p.His407Leu
ENST00000488080.5:n.1071A>T
ENST00000492964.1:n.363A>T
NM_001025201.3:c.1142A>T	NP_001020372.2:p.His381Leu
NM_001206602.1:c.845A>T	NP_001193531.1:p.His282Leu
NM_001822.5:c.1220A>T	NP_001813.1:p.His407Leu
NR_038133.1:n.1086A>T
NM_001025201.4:c.1142A>T	NP_001020372.2:p.His381Leu
NM_001206602.2:c.845A>T	NP_001193531.1:p.His282Leu
NM_001371513.1:c.1220A>T	NP_001358442.1:p.His407Leu
NM_001371514.1:c.1271A>T	NP_001358443.1:p.His424Leu
NM_001822.7:c.1220A>T MANE Select	NP_001813.1:p.His407Leu
NR_038133.2:n.1088A>T