Canonical Allele Identifier: CA352728680

Gene: NDUFAF3

Linked Data

• gnomAD v4: 3-49022525-T-C
• MyVariant Identifiers: chr3:g.49059958T>C (hg19) ; chr3:g.49022525T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49022525T>C , CM000665.2:g.49022525T>C	GRCh38
NC_000003.11:g.49059958T>C , CM000665.1:g.49059958T>C	GRCh37
NC_000003.10:g.49034962T>C	NCBI36
NG_012091.1:g.11918A>G
NG_016282.1:g.7051T>C
NG_033126.1:g.3547A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326925.11:c.257T>C MANE Select	ENSP00000323076.5:p.Val86Ala
ENST00000326912.8:c.86T>C	ENSP00000323003.4:p.Val29Ala
ENST00000326925.10:c.257T>C	ENSP00000323076.5:p.Val86Ala
ENST00000395458.6:c.86T>C	ENSP00000378843.2:p.Val29Ala
ENST00000451378.2:c.86T>C	ENSP00000402465.2:p.Val29Ala
ENST00000480392.1:n.281T>C
ENST00000496152.1:n.413T>C
NM_199069.1:c.257T>C	NP_951032.1:p.Val86Ala
NM_199070.1:c.86T>C	NP_951033.1:p.Val29Ala
NM_199073.1:c.86T>C	NP_951047.1:p.Val29Ala
NM_199074.1:c.86T>C	NP_951056.1:p.Val29Ala
NM_199069.2:c.257T>C MANE Select	NP_951032.1:p.Val86Ala
NM_199070.2:c.86T>C	NP_951033.1:p.Val29Ala
NM_199073.2:c.86T>C	NP_951047.1:p.Val29Ala
NM_199074.2:c.86T>C	NP_951056.1:p.Val29Ala