Canonical Allele Identifier: CA1116813592
Gene: NDUFAF6 HGNC NCBI
MIR3150BHG HGNC NCBI

Linked Data

dbSNP Id: rs1421033691
gnomAD v3: 8-95114858-A-C
gnomAD v4: 8-95114858-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95114858A>C , CM000670.2:g.95114858A>C GRCh38
NC_000008.10:g.96127086A>C , CM000670.1:g.96127086A>C GRCh37
NC_000008.9:g.96196262A>C NCBI36
NG_016647.2:g.224588A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000523184.5:n.345-678A>C (NDUFAF6)
XR_928428.1:n.362-678A>C (MIR3150BHG)
NR_148913.1:n.1081-678A>C (NDUFAF6)
NR_148914.1:n.1278-678A>C (NDUFAF6)
NR_148913.2:n.1067-678A>C (NDUFAF6)
NR_148914.2:n.1264-678A>C (NDUFAF6)