Canonical Allele Identifier: CA446561577

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137639966-C-T
• MyVariant Identifiers: chr5:g.136975655C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639966C>T , CM000667.2:g.137639966C>T	GRCh38
NC_000005.9:g.136975655C>T , CM000667.1:g.136975655C>T	GRCh37
NC_000005.8:g.137003554C>T	NCBI36
NG_032569.1:g.101125G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.915G>A MANE Select	ENSP00000312397.4:p.Val305=
ENST00000309755.8:c.915G>A	ENSP00000312397.4:p.Val305=
ENST00000502381.1:n.502G>A
ENST00000504208.5:c.*335-11529G>A	ENSP00000423585.1:n.*335-11529G>A
ENST00000505853.1:c.795G>A	ENSP00000426173.1:p.Val265=
ENST00000506491.5:c.669G>A	ENSP00000424828.1:p.Val223=
ENST00000506873.5:n.540G>A
ENST00000508657.5:c.819G>A	ENSP00000422099.1:p.Val273=
NM_001257194.1:c.819G>A	NP_001244123.1:p.Val273=
NM_001257195.1:c.669G>A	NP_001244124.1:p.Val223=
NM_017415.2:c.915G>A	NP_059111.2:p.Val305=
NM_017415.3:c.915G>A MANE Select	NP_059111.2:p.Val305=
NM_001257195.2:c.669G>A	NP_001244124.1:p.Val223=