Canonical Allele Identifier: CA3422390

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 350993
• ClinVar RCV Id: RCV000278015 ; RCV001151153
• dbSNP Id: rs143617205
• ExAC: 5:136993967 C / T
• gnomAD v2: 5-136993967-C-T
• gnomAD v3: 5-137658278-C-T
• gnomAD v4: 5-137658278-C-T
• MyVariant Identifiers: chr5:g.136993967C>T (hg19) ; chr5:g.137658278C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137658278C>T , CM000667.2:g.137658278C>T	GRCh38
NC_000005.9:g.136993967C>T , CM000667.1:g.136993967C>T	GRCh37
NC_000005.8:g.137021866C>T	NCBI36
NG_032569.1:g.82813G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.756G>A MANE Select	ENSP00000312397.4:p.Thr252=
ENST00000309755.8:c.756G>A	ENSP00000312397.4:p.Thr252=
ENST00000502381.1:n.343G>A
ENST00000504208.5:c.*187G>A	ENSP00000423585.1:n.*187G>A
ENST00000505853.1:c.636G>A	ENSP00000426173.1:p.Thr212=
ENST00000506491.5:c.510G>A	ENSP00000424828.1:p.Thr170=
ENST00000506873.5:n.381G>A
ENST00000508657.5:c.660G>A	ENSP00000422099.1:p.Thr220=
NM_001257194.1:c.660G>A	NP_001244123.1:p.Thr220=
NM_001257195.1:c.510G>A	NP_001244124.1:p.Thr170=
NM_017415.2:c.756G>A	NP_059111.2:p.Thr252=
NM_017415.3:c.756G>A MANE Select	NP_059111.2:p.Thr252=
NM_001257195.2:c.510G>A	NP_001244124.1:p.Thr170=