Canonical Allele Identifier: CA352293361
Gene: KLHL40 HGNC NCBI

Linked Data

dbSNP Id: rs1364807818
gnomAD v3: 3-42688196-T-C
gnomAD v4: 3-42688196-T-C
MyVariant Identifiers: chr3:g.42729688T>C (hg19) chr3:g.42688196T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688196T>C , CM000665.2:g.42688196T>C GRCh38
NC_000003.11:g.42729688T>C , CM000665.1:g.42729688T>C GRCh37
NC_000003.10:g.42704692T>C NCBI36
NG_033035.1:g.7678T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1207T>C MANE Select ENSP00000287777.4:p.Cys403Arg
ENST00000287777.4:c.1207T>C ENSP00000287777.4:p.Cys403Arg
NM_152393.3:c.1207T>C NP_689606.2:p.Cys403Arg
XM_005264866.2:c.1207T>C XP_005264923.1:p.Cys403Arg
NM_152393.4:c.1207T>C MANE Select NP_689606.2:p.Cys403Arg
Search 100 bp 5'
Search 100 bp 3'