Canonical Allele Identifier: CA352293278
Gene: KLHL40 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.42729658C>A (hg19) chr3:g.42688166C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688166C>A , CM000665.2:g.42688166C>A GRCh38
NC_000003.11:g.42729658C>A , CM000665.1:g.42729658C>A GRCh37
NC_000003.10:g.42704662C>A NCBI36
NG_033035.1:g.7648C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1177C>A MANE Select ENSP00000287777.4:p.Leu393Met
ENST00000287777.4:c.1177C>A ENSP00000287777.4:p.Leu393Met
NM_152393.3:c.1177C>A NP_689606.2:p.Leu393Met
XM_005264866.2:c.1177C>A XP_005264923.1:p.Leu393Met
NM_152393.4:c.1177C>A MANE Select NP_689606.2:p.Leu393Met
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