Canonical Allele Identifier: CA361045399

Gene: KLHL3

Linked Data

• dbSNP Id: rs1358502143
• gnomAD v2: 5-136964003-A-G
• gnomAD v4: 5-137628314-A-G
• MyVariant Identifiers: chr5:g.136964003A>G (hg19) ; chr5:g.137628314A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137628314A>G , CM000667.2:g.137628314A>G	GRCh38
NC_000005.9:g.136964003A>G , CM000667.1:g.136964003A>G	GRCh37
NC_000005.8:g.136991902A>G	NCBI36
NG_032569.1:g.112777T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000309755.9:c.1574T>C MANE Select	ENSP00000312397.4:p.Met525Thr
ENST00000309755.8:c.1574T>C	ENSP00000312397.4:p.Met525Thr
ENST00000447439.6:n.1630T>C
ENST00000504208.5:c.*458T>C	ENSP00000423585.1:n.*458T>C
ENST00000506491.5:c.1328T>C	ENSP00000424828.1:p.Met443Thr
ENST00000506873.5:n.1097T>C
ENST00000508657.5:c.1478T>C	ENSP00000422099.1:p.Met493Thr
ENST00000509694.1:n.367T>C
NM_001257194.1:c.1478T>C	NP_001244123.1:p.Met493Thr
NM_001257195.1:c.1328T>C	NP_001244124.1:p.Met443Thr
NM_017415.2:c.1574T>C	NP_059111.2:p.Met525Thr
NM_017415.3:c.1574T>C MANE Select	NP_059111.2:p.Met525Thr
NM_001257195.2:c.1328T>C	NP_001244124.1:p.Met443Thr