Canonical Allele Identifier: CA352727277

Gene: NDUFAF3

Linked Data

• MyVariant Identifiers: chr3:g.49059819G>C (hg19) ; chr3:g.49022386G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022386G>C , CM000665.2:g.49022386G>C	GRCh38
NC_000003.11:g.49059819G>C , CM000665.1:g.49059819G>C	GRCh37
NC_000003.10:g.49034823G>C	NCBI36
NG_012091.1:g.12057C>G
NG_016282.1:g.6912G>C
NG_033126.1:g.3686C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.118G>C MANE Select	ENSP00000323076.5:p.Glu40Gln
ENST00000326912.8:c.-54G>C	ENSP00000323003.4:n.-54G>C
ENST00000326925.10:c.118G>C	ENSP00000323076.5:p.Glu40Gln
ENST00000395458.6:c.-54G>C	ENSP00000378843.2:n.-54G>C
ENST00000451378.2:c.-54G>C	ENSP00000402465.2:n.-54G>C
ENST00000480392.1:n.142G>C
ENST00000496152.1:n.274G>C
NM_199069.1:c.118G>C	NP_951032.1:p.Glu40Gln
NM_199070.1:c.-54G>C	NP_951033.1:n.-54G>C
NM_199073.1:c.-54G>C	NP_951047.1:n.-54G>C
NM_199074.1:c.-54G>C	NP_951056.1:n.-54G>C
NM_199069.2:c.118G>C MANE Select	NP_951032.1:p.Glu40Gln
NM_199070.2:c.-54G>C	NP_951033.1:n.-54G>C
NM_199073.2:c.-54G>C	NP_951047.1:n.-54G>C
NM_199074.2:c.-54G>C	NP_951056.1:n.-54G>C