Canonical Allele Identifier: CA352293599
Gene: KLHL40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688269G>C , CM000665.2:g.42688269G>C GRCh38
NC_000003.11:g.42729761G>C , CM000665.1:g.42729761G>C GRCh37
NC_000003.10:g.42704765G>C NCBI36
NG_033035.1:g.7751G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1280G>C MANE Select ENSP00000287777.4:p.Arg427Pro
ENST00000287777.4:c.1280G>C ENSP00000287777.4:p.Arg427Pro
NM_152393.3:c.1280G>C NP_689606.2:p.Arg427Pro
XM_005264866.2:c.1280G>C XP_005264923.1:p.Arg427Pro
NM_152393.4:c.1280G>C MANE Select NP_689606.2:p.Arg427Pro