Canonical Allele Identifier: CA361047878

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136974680T>G (hg19) ; chr5:g.137638991T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137638991T>G , CM000667.2:g.137638991T>G	GRCh38
NC_000005.9:g.136974680T>G , CM000667.1:g.136974680T>G	GRCh37
NC_000005.8:g.137002579T>G	NCBI36
NG_032569.1:g.102100A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1181A>C MANE Select	ENSP00000312397.4:p.Asp394Ala
ENST00000309755.8:c.1181A>C	ENSP00000312397.4:p.Asp394Ala
ENST00000502381.1:n.768A>C
ENST00000504208.5:c.*335-10554A>C	ENSP00000423585.1:n.*335-10554A>C
ENST00000505853.1:c.1061A>C	ENSP00000426173.1:p.Asp354Ala
ENST00000506491.5:c.935A>C	ENSP00000424828.1:p.Asp312Ala
ENST00000506873.5:n.806A>C
ENST00000508657.5:c.1085A>C	ENSP00000422099.1:p.Asp362Ala
NM_001257194.1:c.1085A>C	NP_001244123.1:p.Asp362Ala
NM_001257195.1:c.935A>C	NP_001244124.1:p.Asp312Ala
NM_017415.2:c.1181A>C	NP_059111.2:p.Asp394Ala
NM_017415.3:c.1181A>C MANE Select	NP_059111.2:p.Asp394Ala
NM_001257195.2:c.935A>C	NP_001244124.1:p.Asp312Ala