Canonical Allele Identifier: CA269980

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 100540
• ClinVar RCV Id: RCV000128512
• dbSNP Id: rs199469637
• MyVariant Identifiers: chr5:g.137028070G>A (hg19) ; chr5:g.137692381G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137692381G>A , CM000667.2:g.137692381G>A	GRCh38
NC_000005.9:g.137028070G>A , CM000667.1:g.137028070G>A	GRCh37
NC_000005.8:g.137055969G>A	NCBI36
NG_032569.1:g.48710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.430C>T MANE Select	ENSP00000312397.4:p.Gln144Ter
ENST00000309755.8:c.430C>T	ENSP00000312397.4:p.Gln144Ter
ENST00000504208.5:c.184C>T	ENSP00000423585.1:p.Gln62Ter
ENST00000504496.5:n.305C>T
ENST00000505853.1:c.310C>T	ENSP00000426173.1:p.Gln104Ter
ENST00000506491.5:c.184C>T	ENSP00000424828.1:p.Gln62Ter
ENST00000508657.5:c.334C>T	ENSP00000422099.1:p.Gln112Ter
ENST00000510529.1:n.164C>T
ENST00000515334.5:n.337C>T
NM_001257194.1:c.334C>T	NP_001244123.1:p.Gln112Ter
NM_001257195.1:c.184C>T	NP_001244124.1:p.Gln62Ter
NM_017415.2:c.430C>T	NP_059111.2:p.Gln144Ter
NM_017415.3:c.430C>T MANE Select	NP_059111.2:p.Gln144Ter
NM_001257195.2:c.184C>T	NP_001244124.1:p.Gln62Ter