Canonical Allele Identifier: CA128103968

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 596581
• ClinVar RCV Id: RCV000732466
• dbSNP Id: rs144097083
• gnomAD v2: 5-136974819-G-A
• gnomAD v3: 5-137639130-G-A
• gnomAD v4: 5-137639130-G-A
• MyVariant Identifiers: chr5:g.136974819G>A (hg19) ; chr5:g.137639130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639130G>A , CM000667.2:g.137639130G>A	GRCh38
NC_000005.9:g.136974819G>A , CM000667.1:g.136974819G>A	GRCh37
NC_000005.8:g.137002718G>A	NCBI36
NG_032569.1:g.101961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1042C>T MANE Select	ENSP00000312397.4:p.His348Tyr
ENST00000309755.8:c.1042C>T	ENSP00000312397.4:p.His348Tyr
ENST00000502381.1:n.629C>T
ENST00000504208.5:c.*335-10693C>T	ENSP00000423585.1:n.*335-10693C>T
ENST00000505853.1:c.922C>T	ENSP00000426173.1:p.His308Tyr
ENST00000506491.5:c.796C>T	ENSP00000424828.1:p.His266Tyr
ENST00000506873.5:n.667C>T
ENST00000508657.5:c.946C>T	ENSP00000422099.1:p.His316Tyr
NM_001257194.1:c.946C>T	NP_001244123.1:p.His316Tyr
NM_001257195.1:c.796C>T	NP_001244124.1:p.His266Tyr
NM_017415.2:c.1042C>T	NP_059111.2:p.His348Tyr
NM_017415.3:c.1042C>T MANE Select	NP_059111.2:p.His348Tyr
NM_001257195.2:c.796C>T	NP_001244124.1:p.His266Tyr