Canonical Allele Identifier: CA349342593

Gene: CHN1

Linked Data

• MyVariant Identifiers: chr2:g.175664989A>T (hg19) ; chr2:g.174800261A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800261A>T , CM000664.2:g.174800261A>T	GRCh38
NC_000002.11:g.175664989A>T , CM000664.1:g.175664989A>T	GRCh37
NC_000002.10:g.175373235A>T	NCBI36
NG_012642.1:g.210182T>A
NG_012642.2:g.210182T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.860T>A	ENSP00000295497.7:p.Leu287His
ENST00000295497.12:c.860T>A	ENSP00000295497.7:p.Leu287His
ENST00000409089.7:c.611T>A	ENSP00000386322.3:p.Leu204His
ENST00000409900.9:c.1235T>A MANE Select	ENSP00000386741.4:p.Leu412His
ENST00000413882.6:c.689T>A	ENSP00000410496.2:p.Leu230His
ENST00000443238.6:c.713T>A	ENSP00000409798.2:p.Leu238His
ENST00000488080.6:n.878T>A
ENST00000650731.1:c.560T>A	ENSP00000499146.1:p.Leu187His
ENST00000650938.1:c.621T>A
ENST00000651246.1:c.827T>A	ENSP00000498484.1:p.Leu276His
ENST00000651501.1:c.*682T>A	ENSP00000498894.1:n.*682T>A
ENST00000651717.1:c.*511T>A	ENSP00000499124.1:n.*511T>A
ENST00000652036.1:c.911T>A	ENSP00000499139.1:p.Leu304His
ENST00000295497.11:c.860T>A	ENSP00000295497.7:p.Leu287His
ENST00000409156.7:c.1157T>A	ENSP00000386470.3:p.Leu386His
ENST00000409597.5:c.683T>A	ENSP00000386469.1:p.Leu228His
ENST00000409900.7:c.1235T>A	ENSP00000386741.3:p.Leu412His
ENST00000488080.5:n.1086T>A
ENST00000492964.1:n.378T>A
NM_001025201.3:c.1157T>A	NP_001020372.2:p.Leu386His
NM_001206602.1:c.860T>A	NP_001193531.1:p.Leu287His
NM_001822.5:c.1235T>A	NP_001813.1:p.Leu412His
NR_038133.1:n.1101T>A
NM_001025201.4:c.1157T>A	NP_001020372.2:p.Leu386His
NM_001206602.2:c.860T>A	NP_001193531.1:p.Leu287His
NM_001371513.1:c.1235T>A	NP_001358442.1:p.Leu412His
NM_001371514.1:c.1286T>A	NP_001358443.1:p.Leu429His
NM_001822.7:c.1235T>A MANE Select	NP_001813.1:p.Leu412His
NR_038133.2:n.1103T>A