Canonical Allele Identifier: CA361049017

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136975654C>G (hg19) ; chr5:g.137639965C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639965C>G , CM000667.2:g.137639965C>G	GRCh38
NC_000005.9:g.136975654C>G , CM000667.1:g.136975654C>G	GRCh37
NC_000005.8:g.137003553C>G	NCBI36
NG_032569.1:g.101126G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.916G>C MANE Select	ENSP00000312397.4:p.Val306Leu
ENST00000309755.8:c.916G>C	ENSP00000312397.4:p.Val306Leu
ENST00000502381.1:n.503G>C
ENST00000504208.5:c.*335-11528G>C	ENSP00000423585.1:n.*335-11528G>C
ENST00000505853.1:c.796G>C	ENSP00000426173.1:p.Val266Leu
ENST00000506491.5:c.670G>C	ENSP00000424828.1:p.Val224Leu
ENST00000506873.5:n.541G>C
ENST00000508657.5:c.820G>C	ENSP00000422099.1:p.Val274Leu
NM_001257194.1:c.820G>C	NP_001244123.1:p.Val274Leu
NM_001257195.1:c.670G>C	NP_001244124.1:p.Val224Leu
NM_017415.2:c.916G>C	NP_059111.2:p.Val306Leu
NM_017415.3:c.916G>C MANE Select	NP_059111.2:p.Val306Leu
NM_001257195.2:c.670G>C	NP_001244124.1:p.Val224Leu