Canonical Allele Identifier: CA361045521

Gene: KLHL3

Linked Data

• gnomAD v4: 5-137628344-T-G
• MyVariant Identifiers: chr5:g.136964033T>G (hg19) ; chr5:g.137628344T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628344T>G , CM000667.2:g.137628344T>G	GRCh38
NC_000005.9:g.136964033T>G , CM000667.1:g.136964033T>G	GRCh37
NC_000005.8:g.136991932T>G	NCBI36
NG_032569.1:g.112747A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1544A>C MANE Select	ENSP00000312397.4:p.Asn515Thr
ENST00000309755.8:c.1544A>C	ENSP00000312397.4:p.Asn515Thr
ENST00000447439.6:n.1600A>C
ENST00000504208.5:c.*428A>C	ENSP00000423585.1:n.*428A>C
ENST00000506491.5:c.1298A>C	ENSP00000424828.1:p.Asn433Thr
ENST00000506873.5:n.1067A>C
ENST00000508657.5:c.1448A>C	ENSP00000422099.1:p.Asn483Thr
ENST00000509694.1:n.337A>C
NM_001257194.1:c.1448A>C	NP_001244123.1:p.Asn483Thr
NM_001257195.1:c.1298A>C	NP_001244124.1:p.Asn433Thr
NM_017415.2:c.1544A>C	NP_059111.2:p.Asn515Thr
NM_017415.3:c.1544A>C MANE Select	NP_059111.2:p.Asn515Thr
NM_001257195.2:c.1298A>C	NP_001244124.1:p.Asn433Thr