Canonical Allele Identifier: CA543047551

Gene: NDUFAF3

Linked Data

• dbSNP Id: rs1466335275
• gnomAD v2: 3-49059840-ATC-A
• gnomAD v4: 3-49022407-ATC-A
• MyVariant Identifiers: chr3:g.49059841_49059842del (hg19) ; chr3:g.49022408_49022409del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022413_49022414del , CM000665.2:g.49022413_49022414del	GRCh38
NC_000003.11:g.49059846_49059847del , CM000665.1:g.49059846_49059847del	GRCh37
NC_000003.10:g.49034850_49034851del	NCBI36
NG_012091.1:g.12034_12035del
NG_016282.1:g.6939_6940del
NG_033126.1:g.3663_3664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.145_146del MANE Select	ENSP00000323076.5:p.Leu49AlafsTer?
ENST00000326912.8:c.-27_-26del	ENSP00000323003.4:n.-27_-26del
ENST00000326925.10:c.145_146del	ENSP00000323076.5:p.Leu49AlafsTer?
ENST00000395458.6:c.-27_-26del	ENSP00000378843.2:n.-27_-26del
ENST00000451378.2:c.-27_-26del	ENSP00000402465.2:n.-27_-26del
ENST00000480392.1:n.169_170del
ENST00000496152.1:n.301_302del
NM_199069.1:c.145_146del	NP_951032.1:p.Leu49AlafsTer?
NM_199070.1:c.-27_-26del	NP_951033.1:n.-27_-26del
NM_199073.1:c.-27_-26del	NP_951047.1:n.-27_-26del
NM_199074.1:c.-27_-26del	NP_951056.1:n.-27_-26del
NM_199069.2:c.145_146del MANE Select	NP_951032.1:p.Leu49AlafsTer?
NM_199070.2:c.-27_-26del	NP_951033.1:n.-27_-26del
NM_199073.2:c.-27_-26del	NP_951047.1:n.-27_-26del
NM_199074.2:c.-27_-26del	NP_951056.1:n.-27_-26del