Canonical Allele Identifier: CA361045661

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136964071C>A (hg19) ; chr5:g.137628382C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628382C>A , CM000667.2:g.137628382C>A	GRCh38
NC_000005.9:g.136964071C>A , CM000667.1:g.136964071C>A	GRCh37
NC_000005.8:g.136991970C>A	NCBI36
NG_032569.1:g.112709G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1506G>T MANE Select	ENSP00000312397.4:p.Leu502Phe
ENST00000309755.8:c.1506G>T	ENSP00000312397.4:p.Leu502Phe
ENST00000447439.6:n.1562G>T
ENST00000504208.5:c.*390G>T	ENSP00000423585.1:n.*390G>T
ENST00000506491.5:c.1260G>T	ENSP00000424828.1:p.Leu420Phe
ENST00000506873.5:n.1029G>T
ENST00000508657.5:c.1410G>T	ENSP00000422099.1:p.Leu470Phe
ENST00000509694.1:n.299G>T
NM_001257194.1:c.1410G>T	NP_001244123.1:p.Leu470Phe
NM_001257195.1:c.1260G>T	NP_001244124.1:p.Leu420Phe
NM_017415.2:c.1506G>T	NP_059111.2:p.Leu502Phe
NM_017415.3:c.1506G>T MANE Select	NP_059111.2:p.Leu502Phe
NM_001257195.2:c.1260G>T	NP_001244124.1:p.Leu420Phe