Canonical Allele Identifier: CA433210570
Gene: KLHL40 HGNC NCBI

Linked Data

gnomAD v4: 3-42688168-G-A
MyVariant Identifiers: chr3:g.42729660G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688168G>A , CM000665.2:g.42688168G>A GRCh38
NC_000003.11:g.42729660G>A , CM000665.1:g.42729660G>A GRCh37
NC_000003.10:g.42704664G>A NCBI36
NG_033035.1:g.7650G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1179G>A MANE Select ENSP00000287777.4:p.Leu393=
ENST00000287777.4:c.1179G>A ENSP00000287777.4:p.Leu393=
NM_152393.3:c.1179G>A NP_689606.2:p.Leu393=
XM_005264866.2:c.1179G>A XP_005264923.1:p.Leu393=
NM_152393.4:c.1179G>A MANE Select NP_689606.2:p.Leu393=
Search 100 bp 5'
Search 100 bp 3'