Canonical Allele Identifier: CA446560991

Gene: KLHL3

Linked Data

• ClinVar Variation Id: 1973499
• ClinVar RCV Id: RCV002750568
• MyVariant Identifiers: chr5:g.136974691C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639002C>A , CM000667.2:g.137639002C>A	GRCh38
NC_000005.9:g.136974691C>A , CM000667.1:g.136974691C>A	GRCh37
NC_000005.8:g.137002590C>A	NCBI36
NG_032569.1:g.102089G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1170G>T MANE Select	ENSP00000312397.4:p.Ala390=
ENST00000309755.8:c.1170G>T	ENSP00000312397.4:p.Ala390=
ENST00000502381.1:n.757G>T
ENST00000504208.5:c.*335-10565G>T	ENSP00000423585.1:n.*335-10565G>T
ENST00000505853.1:c.1050G>T	ENSP00000426173.1:p.Ala350=
ENST00000506491.5:c.924G>T	ENSP00000424828.1:p.Ala308=
ENST00000506873.5:n.795G>T
ENST00000508657.5:c.1074G>T	ENSP00000422099.1:p.Ala358=
NM_001257194.1:c.1074G>T	NP_001244123.1:p.Ala358=
NM_001257195.1:c.924G>T	NP_001244124.1:p.Ala308=
NM_017415.2:c.1170G>T	NP_059111.2:p.Ala390=
NM_017415.3:c.1170G>T MANE Select	NP_059111.2:p.Ala390=
NM_001257195.2:c.924G>T	NP_001244124.1:p.Ala308=