Canonical Allele Identifier: CA2577563982
Gene: KLHL40 HGNC NCBI

Linked Data

gnomAD v4: 3-42688131-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688131C>T , CM000665.2:g.42688131C>T GRCh38
NC_000003.11:g.42729623C>T , CM000665.1:g.42729623C>T GRCh37
NC_000003.10:g.42704627C>T NCBI36
NG_033035.1:g.7613C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1153-11C>T MANE Select ENSP00000287777.4:n.1153-11C>T
ENST00000287777.4:c.1153-11C>T ENSP00000287777.4:n.1153-11C>T
NM_152393.3:c.1153-11C>T NP_689606.2:n.1153-11C>T
XM_005264866.2:c.1153-11C>T XP_005264923.1:n.1153-11C>T
NM_152393.4:c.1153-11C>T MANE Select NP_689606.2:n.1153-11C>T
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