Canonical Allele Identifier: CA352293294
Gene: KLHL40 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688173T>G , CM000665.2:g.42688173T>G GRCh38
NC_000003.11:g.42729665T>G , CM000665.1:g.42729665T>G GRCh37
NC_000003.10:g.42704669T>G NCBI36
NG_033035.1:g.7655T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000287777.5:c.1184T>G MANE Select ENSP00000287777.4:p.Met395Arg
ENST00000287777.4:c.1184T>G ENSP00000287777.4:p.Met395Arg
NM_152393.3:c.1184T>G NP_689606.2:p.Met395Arg
XM_005264866.2:c.1184T>G XP_005264923.1:p.Met395Arg
NM_152393.4:c.1184T>G MANE Select NP_689606.2:p.Met395Arg