Canonical Allele Identifier: CA352727538

Gene: NDUFAF3

Linked Data

• ClinVar Variation Id: 2274321
• ClinVar RCV Id: RCV002830471
• MyVariant Identifiers: chr3:g.49059843T>C (hg19) ; chr3:g.49022410T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022410T>C , CM000665.2:g.49022410T>C	GRCh38
NC_000003.11:g.49059843T>C , CM000665.1:g.49059843T>C	GRCh37
NC_000003.10:g.49034847T>C	NCBI36
NG_012091.1:g.12033A>G
NG_016282.1:g.6936T>C
NG_033126.1:g.3662A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.142T>C MANE Select	ENSP00000323076.5:p.Ser48Pro
ENST00000326912.8:c.-30T>C	ENSP00000323003.4:n.-30T>C
ENST00000326925.10:c.142T>C	ENSP00000323076.5:p.Ser48Pro
ENST00000395458.6:c.-30T>C	ENSP00000378843.2:n.-30T>C
ENST00000451378.2:c.-30T>C	ENSP00000402465.2:n.-30T>C
ENST00000480392.1:n.166T>C
ENST00000496152.1:n.298T>C
NM_199069.1:c.142T>C	NP_951032.1:p.Ser48Pro
NM_199070.1:c.-30T>C	NP_951033.1:n.-30T>C
NM_199073.1:c.-30T>C	NP_951047.1:n.-30T>C
NM_199074.1:c.-30T>C	NP_951056.1:n.-30T>C
NM_199069.2:c.142T>C MANE Select	NP_951032.1:p.Ser48Pro
NM_199070.2:c.-30T>C	NP_951033.1:n.-30T>C
NM_199073.2:c.-30T>C	NP_951047.1:n.-30T>C
NM_199074.2:c.-30T>C	NP_951056.1:n.-30T>C