Canonical Allele Identifier: CA2665271214
Gene: KLHL40 HGNC NCBI

Linked Data

gnomAD v4: 3-42688133-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688133G>C , CM000665.2:g.42688133G>C GRCh38
NC_000003.11:g.42729625G>C , CM000665.1:g.42729625G>C GRCh37
NC_000003.10:g.42704629G>C NCBI36
NG_033035.1:g.7615G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1153-9G>C MANE Select ENSP00000287777.4:n.1153-9G>C
ENST00000287777.4:c.1153-9G>C ENSP00000287777.4:n.1153-9G>C
NM_152393.3:c.1153-9G>C NP_689606.2:n.1153-9G>C
XM_005264866.2:c.1153-9G>C XP_005264923.1:n.1153-9G>C
NM_152393.4:c.1153-9G>C MANE Select NP_689606.2:n.1153-9G>C