Canonical Allele Identifier: CA361048374

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136974807C>G (hg19) ; chr5:g.137639118C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639118C>G , CM000667.2:g.137639118C>G	GRCh38
NC_000005.9:g.136974807C>G , CM000667.1:g.136974807C>G	GRCh37
NC_000005.8:g.137002706C>G	NCBI36
NG_032569.1:g.101973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1054G>C MANE Select	ENSP00000312397.4:p.Val352Leu
ENST00000309755.8:c.1054G>C	ENSP00000312397.4:p.Val352Leu
ENST00000502381.1:n.641G>C
ENST00000504208.5:c.*335-10681G>C	ENSP00000423585.1:n.*335-10681G>C
ENST00000505853.1:c.934G>C	ENSP00000426173.1:p.Val312Leu
ENST00000506491.5:c.808G>C	ENSP00000424828.1:p.Val270Leu
ENST00000506873.5:n.679G>C
ENST00000508657.5:c.958G>C	ENSP00000422099.1:p.Val320Leu
NM_001257194.1:c.958G>C	NP_001244123.1:p.Val320Leu
NM_001257195.1:c.808G>C	NP_001244124.1:p.Val270Leu
NM_017415.2:c.1054G>C	NP_059111.2:p.Val352Leu
NM_017415.3:c.1054G>C MANE Select	NP_059111.2:p.Val352Leu
NM_001257195.2:c.808G>C	NP_001244124.1:p.Val270Leu