Canonical Allele Identifier: CA361047906

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137639004-C-T
• COSMIC: COSM1619500
• MyVariant Identifiers: chr5:g.136974693C>T (hg19) ; chr5:g.137639004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639004C>T , CM000667.2:g.137639004C>T	GRCh38
NC_000005.9:g.136974693C>T , CM000667.1:g.136974693C>T	GRCh37
NC_000005.8:g.137002592C>T	NCBI36
NG_032569.1:g.102087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1168G>A MANE Select	ENSP00000312397.4:p.Ala390Thr
ENST00000309755.8:c.1168G>A	ENSP00000312397.4:p.Ala390Thr
ENST00000502381.1:n.755G>A
ENST00000504208.5:c.*335-10567G>A	ENSP00000423585.1:n.*335-10567G>A
ENST00000505853.1:c.1048G>A	ENSP00000426173.1:p.Ala350Thr
ENST00000506491.5:c.922G>A	ENSP00000424828.1:p.Ala308Thr
ENST00000506873.5:n.793G>A
ENST00000508657.5:c.1072G>A	ENSP00000422099.1:p.Ala358Thr
NM_001257194.1:c.1072G>A	NP_001244123.1:p.Ala358Thr
NM_001257195.1:c.922G>A	NP_001244124.1:p.Ala308Thr
NM_017415.2:c.1168G>A	NP_059111.2:p.Ala390Thr
NM_017415.3:c.1168G>A MANE Select	NP_059111.2:p.Ala390Thr
NM_001257195.2:c.922G>A	NP_001244124.1:p.Ala308Thr