Canonical Allele Identifier: CA446560974

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137638984-G-A
• MyVariant Identifiers: chr5:g.136974673G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137638984G>A , CM000667.2:g.137638984G>A	GRCh38
NC_000005.9:g.136974673G>A , CM000667.1:g.136974673G>A	GRCh37
NC_000005.8:g.137002572G>A	NCBI36
NG_032569.1:g.102107C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1188C>T MANE Select	ENSP00000312397.4:p.Leu396=
ENST00000309755.8:c.1188C>T	ENSP00000312397.4:p.Leu396=
ENST00000502381.1:n.775C>T
ENST00000504208.5:c.*335-10547C>T	ENSP00000423585.1:n.*335-10547C>T
ENST00000505853.1:c.1068C>T	ENSP00000426173.1:p.Leu356=
ENST00000506491.5:c.942C>T	ENSP00000424828.1:p.Leu314=
ENST00000506873.5:n.813C>T
ENST00000508657.5:c.1092C>T	ENSP00000422099.1:p.Leu364=
NM_001257194.1:c.1092C>T	NP_001244123.1:p.Leu364=
NM_001257195.1:c.942C>T	NP_001244124.1:p.Leu314=
NM_017415.2:c.1188C>T	NP_059111.2:p.Leu396=
NM_017415.3:c.1188C>T MANE Select	NP_059111.2:p.Leu396=
NM_001257195.2:c.942C>T	NP_001244124.1:p.Leu314=