Canonical Allele Identifier: CA74191624
Gene: KLHL40 HGNC NCBI

Linked Data

ClinVar Variation Id: 1517939
ClinVar RCV Id: RCV002021387
dbSNP Id: rs907216548
gnomAD v4: 3-42685743-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42685743G>T , CM000665.2:g.42685743G>T GRCh38
NC_000003.11:g.42727235G>T , CM000665.1:g.42727235G>T GRCh37
NC_000003.10:g.42702239G>T NCBI36
NG_033035.1:g.5225G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.125G>T MANE Select ENSP00000287777.4:p.Arg42Leu
ENST00000287777.4:c.125G>T ENSP00000287777.4:p.Arg42Leu
NM_152393.3:c.125G>T NP_689606.2:p.Arg42Leu
XM_005264866.2:c.125G>T XP_005264923.1:p.Arg42Leu
NM_152393.4:c.125G>T MANE Select NP_689606.2:p.Arg42Leu