Canonical Allele Identifier: CA269967

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 100527
• ClinVar RCV Id: RCV000128499 ; RCV001610387
• dbSNP Id: rs199469644
• MyVariant Identifiers: chr5:g.136969766C>T (hg19) ; chr5:g.137634077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137634077C>T , CM000667.2:g.137634077C>T	GRCh38
NC_000005.9:g.136969766C>T , CM000667.1:g.136969766C>T	GRCh37
NC_000005.8:g.136997665C>T	NCBI36
NG_032569.1:g.107014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1410G>A MANE Select	ENSP00000312397.4:p.Trp470Ter
ENST00000309755.8:c.1410G>A	ENSP00000312397.4:p.Trp470Ter
ENST00000502381.1:n.895G>A
ENST00000504208.5:c.*335-5640G>A	ENSP00000423585.1:n.*335-5640G>A
ENST00000506491.5:c.1164G>A	ENSP00000424828.1:p.Trp388Ter
ENST00000506873.5:n.933G>A
ENST00000508657.5:c.1314G>A	ENSP00000422099.1:p.Trp438Ter
NM_001257194.1:c.1314G>A	NP_001244123.1:p.Trp438Ter
NM_001257195.1:c.1164G>A	NP_001244124.1:p.Trp388Ter
NM_017415.2:c.1410G>A	NP_059111.2:p.Trp470Ter
NM_017415.3:c.1410G>A MANE Select	NP_059111.2:p.Trp470Ter
NM_001257195.2:c.1164G>A	NP_001244124.1:p.Trp388Ter