Canonical Allele Identifier: CA352293487
Gene: KLHL40 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.42729728T>A (hg19) chr3:g.42688236T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688236T>A , CM000665.2:g.42688236T>A GRCh38
NC_000003.11:g.42729728T>A , CM000665.1:g.42729728T>A GRCh37
NC_000003.10:g.42704732T>A NCBI36
NG_033035.1:g.7718T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1247T>A MANE Select ENSP00000287777.4:p.Val416Glu
ENST00000287777.4:c.1247T>A ENSP00000287777.4:p.Val416Glu
NM_152393.3:c.1247T>A NP_689606.2:p.Val416Glu
XM_005264866.2:c.1247T>A XP_005264923.1:p.Val416Glu
NM_152393.4:c.1247T>A MANE Select NP_689606.2:p.Val416Glu
Search 100 bp 5'
Search 100 bp 3'