Canonical Allele Identifier: CA269976

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 100536
• ClinVar RCV Id: RCV000128508 ; RCV001808327
• dbSNP Id: rs199469630
• MyVariant Identifiers: chr5:g.136974701A>G (hg19) ; chr5:g.137639012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639012A>G , CM000667.2:g.137639012A>G	GRCh38
NC_000005.9:g.136974701A>G , CM000667.1:g.136974701A>G	GRCh37
NC_000005.8:g.137002600A>G	NCBI36
NG_032569.1:g.102079T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1160T>C MANE Select	ENSP00000312397.4:p.Leu387Pro
ENST00000309755.8:c.1160T>C	ENSP00000312397.4:p.Leu387Pro
ENST00000502381.1:n.747T>C
ENST00000504208.5:c.*335-10575T>C	ENSP00000423585.1:n.*335-10575T>C
ENST00000505853.1:c.1040T>C	ENSP00000426173.1:p.Leu347Pro
ENST00000506491.5:c.914T>C	ENSP00000424828.1:p.Leu305Pro
ENST00000506873.5:n.785T>C
ENST00000508657.5:c.1064T>C	ENSP00000422099.1:p.Leu355Pro
NM_001257194.1:c.1064T>C	NP_001244123.1:p.Leu355Pro
NM_001257195.1:c.914T>C	NP_001244124.1:p.Leu305Pro
NM_017415.2:c.1160T>C	NP_059111.2:p.Leu387Pro
NM_017415.3:c.1160T>C MANE Select	NP_059111.2:p.Leu387Pro
NM_001257195.2:c.914T>C	NP_001244124.1:p.Leu305Pro