Canonical Allele Identifier: CA182073829

Gene: NDUFAF6 MIR3150BHG

Linked Data

• dbSNP Id: rs539691478
• gnomAD v2: 8-96127123-C-T
• gnomAD v3: 8-95114895-C-T
• gnomAD v4: 8-95114895-C-T
• MyVariant Identifiers: chr8:g.96127123C>T (hg19) ; chr8:g.95114895C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95114895C>T , CM000670.2:g.95114895C>T	GRCh38
NC_000008.10:g.96127123C>T , CM000670.1:g.96127123C>T	GRCh37
NC_000008.9:g.96196299C>T	NCBI36
NG_016647.2:g.224625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000523184.5:n.345-641C>T (NDUFAF6)
XR_928428.1:n.362-641C>T (MIR3150BHG)
NR_148913.1:n.1081-641C>T (NDUFAF6)
NR_148914.1:n.1278-641C>T (NDUFAF6)
NR_148913.2:n.1067-641C>T (NDUFAF6)
NR_148914.2:n.1264-641C>T (NDUFAF6)