Canonical Allele Identifier: CA74192775
Gene: KLHL40 HGNC NCBI

Linked Data

dbSNP Id: rs369757052
gnomAD v2: 3-42729589-C-G
gnomAD v4: 3-42688097-C-G
MyVariant Identifiers: chr3:g.42729589C>G (hg19) chr3:g.42688097C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688097C>G , CM000665.2:g.42688097C>G GRCh38
NC_000003.11:g.42729589C>G , CM000665.1:g.42729589C>G GRCh37
NC_000003.10:g.42704593C>G NCBI36
NG_033035.1:g.7579C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1153-45C>G MANE Select ENSP00000287777.4:n.1153-45C>G
ENST00000287777.4:c.1153-45C>G ENSP00000287777.4:n.1153-45C>G
NM_152393.3:c.1153-45C>G NP_689606.2:n.1153-45C>G
XM_005264866.2:c.1153-45C>G XP_005264923.1:n.1153-45C>G
NM_152393.4:c.1153-45C>G MANE Select NP_689606.2:n.1153-45C>G
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