Canonical Allele Identifier: CA361049016

Gene: KLHL3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.916G>T MANE Select	ENSP00000312397.4:p.Val306Phe
ENST00000309755.8:c.916G>T	ENSP00000312397.4:p.Val306Phe
ENST00000502381.1:n.503G>T
ENST00000504208.5:c.*335-11528G>T	ENSP00000423585.1:n.*335-11528G>T
ENST00000505853.1:c.796G>T	ENSP00000426173.1:p.Val266Phe
ENST00000506491.5:c.670G>T	ENSP00000424828.1:p.Val224Phe
ENST00000506873.5:n.541G>T
ENST00000508657.5:c.820G>T	ENSP00000422099.1:p.Val274Phe
NM_001257194.1:c.820G>T	NP_001244123.1:p.Val274Phe
NM_001257195.1:c.670G>T	NP_001244124.1:p.Val224Phe
NM_017415.2:c.916G>T	NP_059111.2:p.Val306Phe
NM_017415.3:c.916G>T MANE Select	NP_059111.2:p.Val306Phe
NM_001257195.2:c.670G>T	NP_001244124.1:p.Val224Phe