Canonical Allele Identifier: CA380353137

Gene: KBTBD4 NDUFS3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47577629A>G , CM000673.2:g.47577629A>G	GRCh38
NC_000011.9:g.47599181A>G , CM000673.1:g.47599181A>G	GRCh37
NC_000011.8:g.47555757A>G	NCBI36
NG_011946.1:g.3620A>G
NG_011946.2:g.3620A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018095.6:c.419T>C (KBTBD4) MANE Select	NP_060565.4:p.Met140Thr
ENST00000430070.7:c.419T>C (KBTBD4) MANE Select	ENSP00000415106.2:p.Met140Thr
NM_001318716.1:c.518T>C (KBTBD4)	NP_001305645.1:p.Met173Thr
NM_001318716.2:c.518T>C (KBTBD4)	NP_001305645.1:p.Met173Thr
NM_001318717.1:c.488T>C (KBTBD4)	NP_001305646.1:p.Met163Thr
NM_001318717.2:c.488T>C (KBTBD4)	NP_001305646.1:p.Met163Thr
NM_001318718.1:c.446T>C (KBTBD4)	NP_001305647.1:p.Met149Thr
NM_001318718.2:c.446T>C (KBTBD4)	NP_001305647.1:p.Met149Thr
NM_001318719.1:c.446T>C (KBTBD4)	NP_001305648.1:p.Met149Thr
NM_001318719.2:c.446T>C (KBTBD4)	NP_001305648.1:p.Met149Thr
NM_001318720.1:c.440T>C (KBTBD4)	NP_001305649.1:p.Met147Thr
NM_001318720.2:c.440T>C (KBTBD4)	NP_001305649.1:p.Met147Thr
NM_001318721.1:c.371T>C (KBTBD4)	NP_001305650.1:p.Met124Thr
NM_001318721.2:c.371T>C (KBTBD4)	NP_001305650.1:p.Met124Thr
NM_001318722.1:c.371T>C (KBTBD4)	NP_001305651.1:p.Met124Thr
NM_001318722.2:c.371T>C (KBTBD4)	NP_001305651.1:p.Met124Thr
NM_001318723.1:c.371T>C (KBTBD4)	NP_001305652.1:p.Met124Thr
NM_001318723.2:c.371T>C (KBTBD4)	NP_001305652.1:p.Met124Thr
NM_001318724.1:c.371T>C (KBTBD4)	NP_001305653.1:p.Met124Thr
NM_001318724.2:c.371T>C (KBTBD4)	NP_001305653.1:p.Met124Thr
NM_001318725.1:c.371T>C (KBTBD4)	NP_001305654.1:p.Met124Thr
NM_001318725.2:c.371T>C (KBTBD4)	NP_001305654.1:p.Met124Thr
NM_016506.5:c.371T>C (KBTBD4)	NP_057590.3:p.Met124Thr
NM_016506.6:c.371T>C (KBTBD4)	NP_057590.3:p.Met124Thr
NM_016506.7:c.371T>C (KBTBD4)	NP_057590.3:p.Met124Thr
NM_018095.4:c.419T>C (KBTBD4)	NP_060565.4:p.Met140Thr
NM_018095.5:c.419T>C (KBTBD4)	NP_060565.4:p.Met140Thr
NR_024222.1:n.479T>C (KBTBD4)
ENST00000395288.6:c.371T>C (KBTBD4)	ENSP00000378703.2:p.Met124Thr
ENST00000430070.6:c.419T>C (KBTBD4)	ENSP00000415106.2:p.Met140Thr
ENST00000525720.1:c.518T>C (KBTBD4)	ENSP00000434477.1:p.Met173Thr
ENST00000526005.5:c.371T>C (KBTBD4)	ENSP00000433340.1:p.Met124Thr
ENST00000529499.1:c.371T>C (KBTBD4)	ENSP00000433404.1:p.Met124Thr
ENST00000529946.1:c.371T>C (KBTBD4)	ENSP00000435651.1:p.Met124Thr
ENST00000530668.1:c.*372T>C (KBTBD4)	ENSP00000435850.1:n.*372T>C
ENST00000531067.1:c.371T>C (KBTBD4)	ENSP00000433653.1:p.Met124Thr
ENST00000533290.5:c.446T>C (KBTBD4)	ENSP00000436713.1:p.Met149Thr
ENST00000533507.5:n.816-2896A>G (NDUFS3)
ENST00000534239.1:c.446T>C (KBTBD4)	ENSP00000433124.1:p.Met149Thr
XM_006718261.1:c.518T>C (KBTBD4)	XP_006718324.1:p.Met173Thr
XM_006718262.2:c.440T>C (KBTBD4)	XP_006718325.1:p.Met147Thr
XM_011520216.1:c.446T>C (KBTBD4)	XP_011518518.1:p.Met149Thr
XM_011520217.1:c.371T>C (KBTBD4)	XP_011518519.1:p.Met124Thr
XM_017018009.1:c.467T>C (KBTBD4)	XP_016873498.1:p.Met156Thr