Canonical Allele Identifier: CA446556088

Gene: KLHL3

Linked Data

• MyVariant Identifiers: chr5:g.136963996C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628307C>A , CM000667.2:g.137628307C>A	GRCh38
NC_000005.9:g.136963996C>A , CM000667.1:g.136963996C>A	GRCh37
NC_000005.8:g.136991895C>A	NCBI36
NG_032569.1:g.112784G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.1581G>T MANE Select	ENSP00000312397.4:p.Arg527=
ENST00000309755.8:c.1581G>T	ENSP00000312397.4:p.Arg527=
ENST00000447439.6:n.1637G>T
ENST00000504208.5:c.*465G>T	ENSP00000423585.1:n.*465G>T
ENST00000506491.5:c.1335G>T	ENSP00000424828.1:p.Arg445=
ENST00000506873.5:n.1104G>T
ENST00000508657.5:c.1485G>T	ENSP00000422099.1:p.Arg495=
ENST00000509694.1:n.374G>T
NM_001257194.1:c.1485G>T	NP_001244123.1:p.Arg495=
NM_001257195.1:c.1335G>T	NP_001244124.1:p.Arg445=
NM_017415.2:c.1581G>T	NP_059111.2:p.Arg527=
NM_017415.3:c.1581G>T MANE Select	NP_059111.2:p.Arg527=
NM_001257195.2:c.1335G>T	NP_001244124.1:p.Arg445=