Canonical Allele Identifier: CA3931408

Gene: NDUFAF4

Linked Data

• ClinVar Variation Id: 516942
• ClinVar RCV Id: RCV000612845 ; RCV001164693
• dbSNP Id: rs372832376
• ExAC: 6:97339238 C / T
• gnomAD v2: 6-97339238-C-T
• gnomAD v3: 6-96891362-C-T
• gnomAD v4: 6-96891362-C-T
• MyVariant Identifiers: chr6:g.97339238C>T (hg19) ; chr6:g.96891362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.96891362C>T , CM000668.2:g.96891362C>T	GRCh38
NC_000006.11:g.97339238C>T , CM000668.1:g.97339238C>T	GRCh37
NC_000006.10:g.97445959C>T	NCBI36
NG_013379.1:g.11530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316149.8:c.270G>A MANE Select	ENSP00000358272.4:p.Pro90=
ENST00000316149.7:c.270G>A	ENSP00000358272.4:p.Pro90=
ENST00000478382.1:n.205G>A
ENST00000489477.1:n.413G>A
NM_014165.3:c.270G>A	NP_054884.1:p.Pro90=
NM_014165.4:c.270G>A MANE Select	NP_054884.1:p.Pro90=