Canonical Allele Identifier: CA320023

Gene: NDUFAF7 CEBPZ

Linked Data

• ClinVar Variation Id: 214756
• ClinVar RCV Id: RCV000195656
• dbSNP Id: rs145277736
• ExAC: 2:37458811 CA / C
• gnomAD v2: 2-37458811-CA-C
• gnomAD v3: 2-37231668-CA-C
• gnomAD v4: 2-37231668-CA-C
• MyVariant Identifiers: chr2:g.37458812del (hg19) ; chr2:g.37231669del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.37231669del , CM000664.2:g.37231669del	GRCh38
NC_000002.11:g.37458812del , CM000664.1:g.37458812del	GRCh37
NC_000002.10:g.37312316del	NCBI36
NG_050962.1:g.4929del
NG_053078.1:g.5039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000002125.9:c.-37del (NDUFAF7) MANE Select	ENSP00000002125.4:n.-37del
ENST00000002125.8:c.-37del (NDUFAF7)	ENSP00000002125.4:n.-37del
ENST00000234170.9:c.-102del (CEBPZ)	ENSP00000234170.5:n.-102del
ENST00000455230.5:c.-37del (NDUFAF7)	ENSP00000416594.1:n.-37del
ENST00000474154.5:n.7del (NDUFAF7)
NM_001083946.1:c.-37del (NDUFAF7)	NP_001077415.1:n.-37del
NM_144736.4:c.-37del (NDUFAF7)	NP_653337.1:n.-37del
XM_005264411.1:c.-37del (NDUFAF7)	XP_005264468.1:n.-37del
XM_011532956.1:c.-560del (NDUFAF7)	XP_011531258.1:n.-560del
NM_001350024.1:c.-37del (NDUFAF7)	NP_001336953.1:n.-37del
NM_001350025.1:c.-37del (NDUFAF7)	NP_001336954.1:n.-37del
NM_001350027.1:c.-37del (NDUFAF7)	NP_001336956.1:n.-37del
NR_146401.1:n.39del (NDUFAF7)
NR_146402.1:n.39del (NDUFAF7)
NR_146403.1:n.39del (NDUFAF7)
NR_146404.1:n.39del (NDUFAF7)
NR_146405.1:n.39del (NDUFAF7)
NR_146406.1:n.39del (NDUFAF7)
NR_146407.1:n.39del (NDUFAF7)
NR_146408.1:n.39del (NDUFAF7)
NR_146409.1:n.39del (NDUFAF7)
NR_146410.1:n.39del (NDUFAF7)
NM_144736.5:c.-37del (NDUFAF7) MANE Select	NP_653337.1:n.-37del
NM_001083946.2:c.-37del (NDUFAF7)	NP_001077415.1:n.-37del
NM_001350024.2:c.-37del (NDUFAF7)	NP_001336953.1:n.-37del
NM_001350025.2:c.-37del (NDUFAF7)	NP_001336954.1:n.-37del
NM_001350027.2:c.-37del (NDUFAF7)	NP_001336956.1:n.-37del
NR_146401.2:n.12del (NDUFAF7)
NR_146403.2:n.12del (NDUFAF7)
NR_146404.2:n.12del (NDUFAF7)
NR_146406.2:n.12del (NDUFAF7)
NR_146407.2:n.12del (NDUFAF7)
NR_146408.2:n.12del (NDUFAF7)
NR_146409.2:n.12del (NDUFAF7)
NR_146410.2:n.12del (NDUFAF7)
NR_146402.2:n.12del (NDUFAF7)
NR_146405.2:n.12del (NDUFAF7)
NR_146409.3:n.12del (NDUFAF7)