Canonical Allele Identifier: CA2336841
Gene: KLHL40 HGNC NCBI

Linked Data

ClinVar Variation Id: 541330
ClinVar RCV Id: RCV000651589
dbSNP Id: rs752493018
ExAC: 3:42729632 A / T
gnomAD v2: 3-42729632-A-T
gnomAD v4: 3-42688140-A-T
MyVariant Identifiers: chr3:g.42729632A>T (hg19) chr3:g.42688140A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688140A>T , CM000665.2:g.42688140A>T GRCh38
NC_000003.11:g.42729632A>T , CM000665.1:g.42729632A>T GRCh37
NC_000003.10:g.42704636A>T NCBI36
NG_033035.1:g.7622A>T

Transcript Alleles

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