Canonical Allele Identifier: CA8950703

Gene: ATP5F1A

Linked Data

• ClinVar Variation Id: 508005
• ClinVar RCV Id: RCV001722627
• dbSNP Id: rs763102405
• ExAC: 18:43667424 C / T
• gnomAD v2: 18-43667424-C-T
• gnomAD v3: 18-46087458-C-T
• gnomAD v4: 18-46087458-C-T
• MyVariant Identifiers: chr18:g.43667424C>T (hg19) ; chr18:g.46087458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087458C>T , CM000680.2:g.46087458C>T	GRCh38
NC_000018.9:g.43667424C>T , CM000680.1:g.43667424C>T	GRCh37
NC_000018.8:g.41921422C>T	NCBI36
NG_041769.1:g.21776G>A
NG_041769.2:g.26776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.834G>A MANE Select	ENSP00000381736.5:p.Thr278=
ENST00000282050.6:c.834G>A	ENSP00000282050.2:p.Thr278=
ENST00000398752.10:c.834G>A	ENSP00000381736.5:p.Thr278=
ENST00000586523.1:n.1239G>A
ENST00000586592.5:c.*897G>A	ENSP00000466275.3:n.*897G>A
ENST00000589252.5:c.567G>A	ENSP00000466975.1:p.Thr189=
ENST00000590156.5:c.*730G>A	ENSP00000466309.1:n.*730G>A
ENST00000590665.5:c.768G>A	ENSP00000467037.1:p.Thr256=
ENST00000592364.5:c.227-394G>A	ENSP00000468618.1:n.227-394G>A
ENST00000593152.6:c.684G>A	ENSP00000465477.2:p.Thr228=
NM_001001935.2:c.684G>A	NP_001001935.1:p.Thr228=
NM_001001937.1:c.834G>A	NP_001001937.1:p.Thr278=
NM_001257334.1:c.768G>A	NP_001244263.1:p.Thr256=
NM_001257335.1:c.684G>A	NP_001244264.1:p.Thr228=
NM_004046.5:c.834G>A	NP_004037.1:p.Thr278=
XM_011526018.1:c.684G>A	XP_011524320.1:p.Thr228=
XM_017025789.1:c.834G>A	XP_016881278.1:p.Thr278=
NM_004046.6:c.834G>A MANE Select	NP_004037.1:p.Thr278=
NM_001001935.3:c.684G>A	NP_001001935.1:p.Thr228=
NM_001257334.2:c.768G>A	NP_001244263.1:p.Thr256=
NM_001001937.2:c.834G>A	NP_001001937.1:p.Thr278=
NM_001257335.2:c.684G>A	NP_001244264.1:p.Thr228=