Canonical Allele Identifier: CA3931512

Gene: NDUFAF4

Linked Data

• ClinVar Variation Id: 432693
• ClinVar RCV Id: RCV000498810 ; RCV002279722
• dbSNP Id: rs558262843
• ExAC: 6:97345677 T / C
• gnomAD v2: 6-97345677-T-C
• gnomAD v3: 6-96897801-T-C
• gnomAD v4: 6-96897801-T-C
• MyVariant Identifiers: chr6:g.97345677T>C (hg19) ; chr6:g.96897801T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.96897801T>C , CM000668.2:g.96897801T>C	GRCh38
NC_000006.11:g.97345677T>C , CM000668.1:g.97345677T>C	GRCh37
NC_000006.10:g.97452398T>C	NCBI36
NG_013379.1:g.5091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316149.8:c.1A>G MANE Select	ENSP00000358272.4:p.Met1Val
ENST00000316149.7:c.1A>G	ENSP00000358272.4:p.Met1Val
ENST00000489477.1:n.74A>G
NM_014165.3:c.1A>G	NP_054884.1:p.Met1Val
NM_014165.4:c.1A>G MANE Select	NP_054884.1:p.Met1Val