Canonical Allele Identifier: CA361045793

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628435-C-T
• MyVariant Identifiers: chr5:g.136964124C>T (hg19) ; chr5:g.137628435C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628435C>T , CM000667.2:g.137628435C>T	GRCh38
NC_000005.9:g.136964124C>T , CM000667.1:g.136964124C>T	GRCh37
NC_000005.8:g.136992023C>T	NCBI36
NG_032569.1:g.112656G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1453G>A MANE Select	ENSP00000312397.4:p.Val485Ile
ENST00000309755.8:c.1453G>A	ENSP00000312397.4:p.Val485Ile
ENST00000447439.6:n.1509G>A
ENST00000504208.5:c.*337G>A	ENSP00000423585.1:n.*337G>A
ENST00000506491.5:c.1207G>A	ENSP00000424828.1:p.Val403Ile
ENST00000506873.5:n.976G>A
ENST00000508657.5:c.1357G>A	ENSP00000422099.1:p.Val453Ile
ENST00000509694.1:n.246G>A
NM_001257194.1:c.1357G>A	NP_001244123.1:p.Val453Ile
NM_001257195.1:c.1207G>A	NP_001244124.1:p.Val403Ile
NM_017415.2:c.1453G>A	NP_059111.2:p.Val485Ile
NM_017415.3:c.1453G>A MANE Select	NP_059111.2:p.Val485Ile
NM_001257195.2:c.1207G>A	NP_001244124.1:p.Val403Ile