Canonical Allele Identifier: CA361045464

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136964019C>A (hg19) ; chr5:g.137628330C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628330C>A , CM000667.2:g.137628330C>A	GRCh38
NC_000005.9:g.136964019C>A , CM000667.1:g.136964019C>A	GRCh37
NC_000005.8:g.136991918C>A	NCBI36
NG_032569.1:g.112761G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1558G>T MANE Select	ENSP00000312397.4:p.Val520Leu
ENST00000309755.8:c.1558G>T	ENSP00000312397.4:p.Val520Leu
ENST00000447439.6:n.1614G>T
ENST00000504208.5:c.*442G>T	ENSP00000423585.1:n.*442G>T
ENST00000506491.5:c.1312G>T	ENSP00000424828.1:p.Val438Leu
ENST00000506873.5:n.1081G>T
ENST00000508657.5:c.1462G>T	ENSP00000422099.1:p.Val488Leu
ENST00000509694.1:n.351G>T
NM_001257194.1:c.1462G>T	NP_001244123.1:p.Val488Leu
NM_001257195.1:c.1312G>T	NP_001244124.1:p.Val438Leu
NM_017415.2:c.1558G>T	NP_059111.2:p.Val520Leu
NM_017415.3:c.1558G>T MANE Select	NP_059111.2:p.Val520Leu
NM_001257195.2:c.1312G>T	NP_001244124.1:p.Val438Leu