Canonical Allele Identifier: CA2578414131

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137638906-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137638906G>T , CM000667.2:g.137638906G>T	GRCh38
NC_000005.9:g.136974595G>T , CM000667.1:g.136974595G>T	GRCh37
NC_000005.8:g.137002494G>T	NCBI36
NG_032569.1:g.102185C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1219+47C>A MANE Select	ENSP00000312397.4:n.1219+47C>A
ENST00000309755.8:c.1219+47C>A	ENSP00000312397.4:n.1219+47C>A
ENST00000502381.1:n.806+47C>A
ENST00000504208.5:c.*335-10469C>A	ENSP00000423585.1:n.*335-10469C>A
ENST00000505853.1:c.1099+47C>A	ENSP00000426173.1:n.1099+47C>A
ENST00000506491.5:c.973+47C>A	ENSP00000424828.1:n.973+47C>A
ENST00000506873.5:n.844+47C>A
ENST00000508657.5:c.1123+47C>A	ENSP00000422099.1:n.1123+47C>A
NM_001257194.1:c.1123+47C>A	NP_001244123.1:n.1123+47C>A
NM_001257195.1:c.973+47C>A	NP_001244124.1:n.973+47C>A
NM_017415.2:c.1219+47C>A	NP_059111.2:n.1219+47C>A
NM_017415.3:c.1219+47C>A MANE Select	NP_059111.2:n.1219+47C>A
NM_001257195.2:c.973+47C>A	NP_001244124.1:n.973+47C>A