Canonical Allele Identifier: CA433211071
Gene: KLHL40 HGNC NCBI

Linked Data

dbSNP Id: rs1697303573
MyVariant Identifiers: chr3:g.42729735T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688243T>C , CM000665.2:g.42688243T>C GRCh38
NC_000003.11:g.42729735T>C , CM000665.1:g.42729735T>C GRCh37
NC_000003.10:g.42704739T>C NCBI36
NG_033035.1:g.7725T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1254T>C MANE Select ENSP00000287777.4:p.Gly418=
ENST00000287777.4:c.1254T>C ENSP00000287777.4:p.Gly418=
NM_152393.3:c.1254T>C NP_689606.2:p.Gly418=
XM_005264866.2:c.1254T>C XP_005264923.1:p.Gly418=
NM_152393.4:c.1254T>C MANE Select NP_689606.2:p.Gly418=
Search 100 bp 5'
Search 100 bp 3'