Canonical Allele Identifier: CA361045434

Gene: KLHL3

Linked Data

• dbSNP Id: rs768057381
• gnomAD v2: 5-136964011-G-T
• gnomAD v4: 5-137628322-G-T
• MyVariant Identifiers: chr5:g.136964011G>T (hg19) ; chr5:g.137628322G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628322G>T , CM000667.2:g.137628322G>T	GRCh38
NC_000005.9:g.136964011G>T , CM000667.1:g.136964011G>T	GRCh37
NC_000005.8:g.136991910G>T	NCBI36
NG_032569.1:g.112769C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1566C>A MANE Select	ENSP00000312397.4:p.Asp522Glu
ENST00000309755.8:c.1566C>A	ENSP00000312397.4:p.Asp522Glu
ENST00000447439.6:n.1622C>A
ENST00000504208.5:c.*450C>A	ENSP00000423585.1:n.*450C>A
ENST00000506491.5:c.1320C>A	ENSP00000424828.1:p.Asp440Glu
ENST00000506873.5:n.1089C>A
ENST00000508657.5:c.1470C>A	ENSP00000422099.1:p.Asp490Glu
ENST00000509694.1:n.359C>A
NM_001257194.1:c.1470C>A	NP_001244123.1:p.Asp490Glu
NM_001257195.1:c.1320C>A	NP_001244124.1:p.Asp440Glu
NM_017415.2:c.1566C>A	NP_059111.2:p.Asp522Glu
NM_017415.3:c.1566C>A MANE Select	NP_059111.2:p.Asp522Glu
NM_001257195.2:c.1320C>A	NP_001244124.1:p.Asp440Glu