Canonical Allele Identifier: CA2665271196
Gene: KLHL40 HGNC NCBI

Linked Data

gnomAD v4: 3-42688091-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688091C>A , CM000665.2:g.42688091C>A GRCh38
NC_000003.11:g.42729583C>A , CM000665.1:g.42729583C>A GRCh37
NC_000003.10:g.42704587C>A NCBI36
NG_033035.1:g.7573C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1153-51C>A MANE Select ENSP00000287777.4:n.1153-51C>A
ENST00000287777.4:c.1153-51C>A ENSP00000287777.4:n.1153-51C>A
NM_152393.3:c.1153-51C>A NP_689606.2:n.1153-51C>A
XM_005264866.2:c.1153-51C>A XP_005264923.1:n.1153-51C>A
NM_152393.4:c.1153-51C>A MANE Select NP_689606.2:n.1153-51C>A
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