Canonical Allele Identifier: CA352727581

Gene: NDUFAF3

Linked Data

• ClinVar Variation Id: 1519839
• ClinVar RCV Id: RCV002038408
• dbSNP Id: rs2106770663
• gnomAD v4: 3-49022417-T-C
• MyVariant Identifiers: chr3:g.49059850T>C (hg19) ; chr3:g.49022417T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022417T>C , CM000665.2:g.49022417T>C	GRCh38
NC_000003.11:g.49059850T>C , CM000665.1:g.49059850T>C	GRCh37
NC_000003.10:g.49034854T>C	NCBI36
NG_012091.1:g.12026A>G
NG_016282.1:g.6943T>C
NG_033126.1:g.3655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.149T>C MANE Select	ENSP00000323076.5:p.Leu50Pro
ENST00000326912.8:c.-23T>C	ENSP00000323003.4:n.-23T>C
ENST00000326925.10:c.149T>C	ENSP00000323076.5:p.Leu50Pro
ENST00000395458.6:c.-23T>C	ENSP00000378843.2:n.-23T>C
ENST00000451378.2:c.-23T>C	ENSP00000402465.2:n.-23T>C
ENST00000480392.1:n.173T>C
ENST00000496152.1:n.305T>C
NM_199069.1:c.149T>C	NP_951032.1:p.Leu50Pro
NM_199070.1:c.-23T>C	NP_951033.1:n.-23T>C
NM_199073.1:c.-23T>C	NP_951047.1:n.-23T>C
NM_199074.1:c.-23T>C	NP_951056.1:n.-23T>C
NM_199069.2:c.149T>C MANE Select	NP_951032.1:p.Leu50Pro
NM_199070.2:c.-23T>C	NP_951033.1:n.-23T>C
NM_199073.2:c.-23T>C	NP_951047.1:n.-23T>C
NM_199074.2:c.-23T>C	NP_951056.1:n.-23T>C