Canonical Allele Identifier: CA446556205

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136964035T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628346T>C , CM000667.2:g.137628346T>C	GRCh38
NC_000005.9:g.136964035T>C , CM000667.1:g.136964035T>C	GRCh37
NC_000005.8:g.136991934T>C	NCBI36
NG_032569.1:g.112745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1542A>G MANE Select	ENSP00000312397.4:p.Thr514=
ENST00000309755.8:c.1542A>G	ENSP00000312397.4:p.Thr514=
ENST00000447439.6:n.1598A>G
ENST00000504208.5:c.*426A>G	ENSP00000423585.1:n.*426A>G
ENST00000506491.5:c.1296A>G	ENSP00000424828.1:p.Thr432=
ENST00000506873.5:n.1065A>G
ENST00000508657.5:c.1446A>G	ENSP00000422099.1:p.Thr482=
ENST00000509694.1:n.335A>G
NM_001257194.1:c.1446A>G	NP_001244123.1:p.Thr482=
NM_001257195.1:c.1296A>G	NP_001244124.1:p.Thr432=
NM_017415.2:c.1542A>G	NP_059111.2:p.Thr514=
NM_017415.3:c.1542A>G MANE Select	NP_059111.2:p.Thr514=
NM_001257195.2:c.1296A>G	NP_001244124.1:p.Thr432=