Canonical Allele Identifier: CA269975

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 100534
• ClinVar RCV Id: RCV000128506
• dbSNP Id: rs199469625
• MyVariant Identifiers: chr5:g.137034085T>G (hg19) ; chr5:g.137698396T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137698396T>G , CM000667.2:g.137698396T>G	GRCh38
NC_000005.9:g.137034085T>G , CM000667.1:g.137034085T>G	GRCh37
NC_000005.8:g.137061984T>G	NCBI36
NG_032569.1:g.42695A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.254A>C MANE Select	ENSP00000312397.4:p.Glu85Ala
ENST00000309755.8:c.254A>C	ENSP00000312397.4:p.Glu85Ala
ENST00000504208.5:c.8A>C	ENSP00000423585.1:p.Glu3Ala
ENST00000505853.1:c.134A>C	ENSP00000426173.1:p.Glu45Ala
ENST00000506491.5:c.8A>C	ENSP00000424828.1:p.Glu3Ala
ENST00000508657.5:c.158A>C	ENSP00000422099.1:p.Glu53Ala
ENST00000515334.5:n.161A>C
NM_001257194.1:c.158A>C	NP_001244123.1:p.Glu53Ala
NM_001257195.1:c.8A>C	NP_001244124.1:p.Glu3Ala
NM_017415.2:c.254A>C	NP_059111.2:p.Glu85Ala
NM_017415.3:c.254A>C MANE Select	NP_059111.2:p.Glu85Ala
NM_001257195.2:c.8A>C	NP_001244124.1:p.Glu3Ala