Canonical Allele Identifier: CA352293290
Gene: KLHL40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688172A>C , CM000665.2:g.42688172A>C GRCh38
NC_000003.11:g.42729664A>C , CM000665.1:g.42729664A>C GRCh37
NC_000003.10:g.42704668A>C NCBI36
NG_033035.1:g.7654A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287777.5:c.1183A>C MANE Select ENSP00000287777.4:p.Met395Leu
ENST00000287777.4:c.1183A>C ENSP00000287777.4:p.Met395Leu
NM_152393.3:c.1183A>C NP_689606.2:p.Met395Leu
XM_005264866.2:c.1183A>C XP_005264923.1:p.Met395Leu
NM_152393.4:c.1183A>C MANE Select NP_689606.2:p.Met395Leu