Canonical Allele Identifier: CA2675416301

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628470-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628470G>A , CM000667.2:g.137628470G>A	GRCh38
NC_000005.9:g.136964159G>A , CM000667.1:g.136964159G>A	GRCh37
NC_000005.8:g.136992058G>A	NCBI36
NG_032569.1:g.112621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1451-33C>T MANE Select	ENSP00000312397.4:n.1451-33C>T
ENST00000309755.8:c.1451-33C>T	ENSP00000312397.4:n.1451-33C>T
ENST00000447439.6:n.1474C>T
ENST00000504208.5:c.*335-33C>T	ENSP00000423585.1:n.*335-33C>T
ENST00000506491.5:c.1205-33C>T	ENSP00000424828.1:n.1205-33C>T
ENST00000506873.5:n.974-33C>T
ENST00000508657.5:c.1355-33C>T	ENSP00000422099.1:n.1355-33C>T
ENST00000509694.1:n.211C>T
NM_001257194.1:c.1355-33C>T	NP_001244123.1:n.1355-33C>T
NM_001257195.1:c.1205-33C>T	NP_001244124.1:n.1205-33C>T
NM_017415.2:c.1451-33C>T	NP_059111.2:n.1451-33C>T
NM_017415.3:c.1451-33C>T MANE Select	NP_059111.2:n.1451-33C>T
NM_001257195.2:c.1205-33C>T	NP_001244124.1:n.1205-33C>T