Canonical Allele Identifier: CA361049012

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136975653A>T (hg19) ; chr5:g.137639964A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639964A>T , CM000667.2:g.137639964A>T	GRCh38
NC_000005.9:g.136975653A>T , CM000667.1:g.136975653A>T	GRCh37
NC_000005.8:g.137003552A>T	NCBI36
NG_032569.1:g.101127T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.917T>A MANE Select	ENSP00000312397.4:p.Val306Asp
ENST00000309755.8:c.917T>A	ENSP00000312397.4:p.Val306Asp
ENST00000502381.1:n.504T>A
ENST00000504208.5:c.*335-11527T>A	ENSP00000423585.1:n.*335-11527T>A
ENST00000505853.1:c.797T>A	ENSP00000426173.1:p.Val266Asp
ENST00000506491.5:c.671T>A	ENSP00000424828.1:p.Val224Asp
ENST00000506873.5:n.542T>A
ENST00000508657.5:c.821T>A	ENSP00000422099.1:p.Val274Asp
NM_001257194.1:c.821T>A	NP_001244123.1:p.Val274Asp
NM_001257195.1:c.671T>A	NP_001244124.1:p.Val224Asp
NM_017415.2:c.917T>A	NP_059111.2:p.Val306Asp
NM_017415.3:c.917T>A MANE Select	NP_059111.2:p.Val306Asp
NM_001257195.2:c.671T>A	NP_001244124.1:p.Val224Asp