Canonical Allele Identifier: CA3278143

Gene: NDUFAF2

Linked Data

• ClinVar Variation Id: 388250
• ClinVar RCV Id: RCV000422577 ; RCV002526342
• dbSNP Id: rs116558787
• ExAC: 5:60394799 A / C
• gnomAD v2: 5-60394799-A-C
• gnomAD v3: 5-61098972-A-C
• gnomAD v4: 5-61098972-A-C
• MyVariant Identifiers: chr5:g.60394799A>C (hg19) ; chr5:g.61098972A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.61098972A>C , CM000667.2:g.61098972A>C	GRCh38
NC_000005.9:g.60394799A>C , CM000667.1:g.60394799A>C	GRCh37
NC_000005.8:g.60430556A>C	NCBI36
NG_008978.1:g.158844A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296597.10:c.218-20A>C MANE Select	ENSP00000296597.5:n.218-20A>C
ENST00000677756.1:c.*234-20A>C	ENSP00000503642.1:n.*234-20A>C
ENST00000677932.1:c.218-20A>C	ENSP00000504750.1:n.218-20A>C
ENST00000678452.1:c.*48-20A>C	ENSP00000504248.1:n.*48-20A>C
ENST00000296597.9:c.218-20A>C	ENSP00000296597.5:n.218-20A>C
ENST00000502658.1:c.138+25758A>C
ENST00000511107.1:c.174-20A>C	ENSP00000423377.1:n.174-20A>C
ENST00000512623.1:n.343-20A>C
NM_174889.4:c.218-20A>C	NP_777549.1:n.218-20A>C
NM_174889.5:c.218-20A>C MANE Select	NP_777549.1:n.218-20A>C