Canonical Allele Identifier: CA1116813583
Gene: NDUFAF6 HGNC NCBI
MIR3150BHG HGNC NCBI

Linked Data

dbSNP Id: rs1810093643
gnomAD v3: 8-95114808-T-C
gnomAD v4: 8-95114808-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95114808T>C , CM000670.2:g.95114808T>C GRCh38
NC_000008.10:g.96127036T>C , CM000670.1:g.96127036T>C GRCh37
NC_000008.9:g.96196212T>C NCBI36
NG_016647.2:g.224538T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000523184.5:n.345-728T>C (NDUFAF6)
XR_928428.1:n.362-728T>C (MIR3150BHG)
NR_148913.1:n.1081-728T>C (NDUFAF6)
NR_148914.1:n.1278-728T>C (NDUFAF6)
NR_148913.2:n.1067-728T>C (NDUFAF6)
NR_148914.2:n.1264-728T>C (NDUFAF6)