Canonical Allele Identifier: CA402357044

Gene: ATP5F1A

Linked Data

• ClinVar Variation Id: 432972
• ClinVar RCV Id: RCV000497633 ; RCV001293385 ; RCV003226313
• dbSNP Id: rs1555695342
• gnomAD v4: 18-46089596-C-T
• MyVariant Identifiers: chr18:g.43669562C>T (hg19) ; chr18:g.46089596C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46089596C>T , CM000680.2:g.46089596C>T	GRCh38
NC_000018.9:g.43669562C>T , CM000680.1:g.43669562C>T	GRCh37
NC_000018.8:g.41923560C>T	NCBI36
NG_041769.1:g.19638G>A
NG_041769.2:g.24638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.620G>A MANE Select	ENSP00000381736.5:p.Arg207His
ENST00000282050.6:c.620G>A	ENSP00000282050.2:p.Arg207His
ENST00000398752.10:c.620G>A	ENSP00000381736.5:p.Arg207His
ENST00000586592.5:c.*683G>A	ENSP00000466275.3:n.*683G>A
ENST00000589252.5:c.353G>A	ENSP00000466975.1:p.Arg118His
ENST00000589611.1:n.828G>A
ENST00000589869.5:c.470G>A	ENSP00000465497.1:p.Arg157His
ENST00000590156.5:c.*516G>A	ENSP00000466309.1:n.*516G>A
ENST00000590665.5:c.554G>A	ENSP00000467037.1:p.Arg185His
ENST00000592364.5:c.226+2169G>A	ENSP00000468618.1:n.226+2169G>A
ENST00000593152.6:c.470G>A	ENSP00000465477.2:p.Arg157His
NM_001001935.2:c.470G>A	NP_001001935.1:p.Arg157His
NM_001001937.1:c.620G>A	NP_001001937.1:p.Arg207His
NM_001257334.1:c.554G>A	NP_001244263.1:p.Arg185His
NM_001257335.1:c.470G>A	NP_001244264.1:p.Arg157His
NM_004046.5:c.620G>A	NP_004037.1:p.Arg207His
XM_011526018.1:c.470G>A	XP_011524320.1:p.Arg157His
XM_017025789.1:c.620G>A	XP_016881278.1:p.Arg207His
NM_004046.6:c.620G>A MANE Select	NP_004037.1:p.Arg207His
NM_001001935.3:c.470G>A	NP_001001935.1:p.Arg157His
NM_001257334.2:c.554G>A	NP_001244263.1:p.Arg185His
NM_001001937.2:c.620G>A	NP_001001937.1:p.Arg207His
NM_001257335.2:c.470G>A	NP_001244264.1:p.Arg157His