Canonical Allele Identifier: CA361048328

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136974796A>C (hg19) ; chr5:g.137639107A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639107A>C , CM000667.2:g.137639107A>C	GRCh38
NC_000005.9:g.136974796A>C , CM000667.1:g.136974796A>C	GRCh37
NC_000005.8:g.137002695A>C	NCBI36
NG_032569.1:g.101984T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1065T>G MANE Select	ENSP00000312397.4:p.Phe355Leu
ENST00000309755.8:c.1065T>G	ENSP00000312397.4:p.Phe355Leu
ENST00000502381.1:n.652T>G
ENST00000504208.5:c.*335-10670T>G	ENSP00000423585.1:n.*335-10670T>G
ENST00000505853.1:c.945T>G	ENSP00000426173.1:p.Phe315Leu
ENST00000506491.5:c.819T>G	ENSP00000424828.1:p.Phe273Leu
ENST00000506873.5:n.690T>G
ENST00000508657.5:c.969T>G	ENSP00000422099.1:p.Phe323Leu
NM_001257194.1:c.969T>G	NP_001244123.1:p.Phe323Leu
NM_001257195.1:c.819T>G	NP_001244124.1:p.Phe273Leu
NM_017415.2:c.1065T>G	NP_059111.2:p.Phe355Leu
NM_017415.3:c.1065T>G MANE Select	NP_059111.2:p.Phe355Leu
NM_001257195.2:c.819T>G	NP_001244124.1:p.Phe273Leu