Canonical Allele Identifier: CA446556452

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136964122A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628433A>C , CM000667.2:g.137628433A>C	GRCh38
NC_000005.9:g.136964122A>C , CM000667.1:g.136964122A>C	GRCh37
NC_000005.8:g.136992021A>C	NCBI36
NG_032569.1:g.112658T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1455T>G MANE Select	ENSP00000312397.4:p.Val485=
ENST00000309755.8:c.1455T>G	ENSP00000312397.4:p.Val485=
ENST00000447439.6:n.1511T>G
ENST00000504208.5:c.*339T>G	ENSP00000423585.1:n.*339T>G
ENST00000506491.5:c.1209T>G	ENSP00000424828.1:p.Val403=
ENST00000506873.5:n.978T>G
ENST00000508657.5:c.1359T>G	ENSP00000422099.1:p.Val453=
ENST00000509694.1:n.248T>G
NM_001257194.1:c.1359T>G	NP_001244123.1:p.Val453=
NM_001257195.1:c.1209T>G	NP_001244124.1:p.Val403=
NM_017415.2:c.1455T>G	NP_059111.2:p.Val485=
NM_017415.3:c.1455T>G MANE Select	NP_059111.2:p.Val485=
NM_001257195.2:c.1209T>G	NP_001244124.1:p.Val403=