Canonical Allele Identifier: CA1360458690
Community Standard Title: NM_152393.4(KLHL40):c.1612G= (p.Ala538=)
Gene: KLHL40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42690863G= , CM000665.2:g.42690863G= GRCh38
NC_000003.11:g.42732355G= , CM000665.1:g.42732355G= GRCh37
NC_000003.10:g.42707359G= NCBI36
NG_033035.1:g.10345G=

Transcript Alleles

HGVS Amino-acid Change
NM_152393.4:c.1612G= MANE Select NP_689606.2:p.Ala538=
ENST00000287777.5:c.1612G= MANE Select ENSP00000287777.4:p.Ala538=
NM_152393.3:c.1612G= NP_689606.2:p.Ala538=
ENST00000287777.4:c.1612G= ENSP00000287777.4:p.Ala538=
XM_005264866.2:c.1504G= XP_005264923.1:p.Ala502=