Canonical Allele Identifier: CA8950697

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs372489947
• ExAC: 18:43667406 T / C
• gnomAD v2: 18-43667406-T-C
• gnomAD v4: 18-46087440-T-C
• MyVariant Identifiers: chr18:g.43667406T>C (hg19) ; chr18:g.46087440T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087440T>C , CM000680.2:g.46087440T>C	GRCh38
NC_000018.9:g.43667406T>C , CM000680.1:g.43667406T>C	GRCh37
NC_000018.8:g.41921404T>C	NCBI36
NG_041769.1:g.21794A>G
NG_041769.2:g.26794A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.852A>G MANE Select	ENSP00000381736.5:p.Pro284=
ENST00000282050.6:c.852A>G	ENSP00000282050.2:p.Pro284=
ENST00000398752.10:c.852A>G	ENSP00000381736.5:p.Pro284=
ENST00000586523.1:n.1257A>G
ENST00000586592.5:c.*915A>G	ENSP00000466275.3:n.*915A>G
ENST00000589252.5:c.585A>G	ENSP00000466975.1:p.Pro195=
ENST00000590156.5:c.*748A>G	ENSP00000466309.1:n.*748A>G
ENST00000590665.5:c.786A>G	ENSP00000467037.1:p.Pro262=
ENST00000592364.5:c.227-376A>G	ENSP00000468618.1:n.227-376A>G
ENST00000593152.6:c.702A>G	ENSP00000465477.2:p.Pro234=
NM_001001935.2:c.702A>G	NP_001001935.1:p.Pro234=
NM_001001937.1:c.852A>G	NP_001001937.1:p.Pro284=
NM_001257334.1:c.786A>G	NP_001244263.1:p.Pro262=
NM_001257335.1:c.702A>G	NP_001244264.1:p.Pro234=
NM_004046.5:c.852A>G	NP_004037.1:p.Pro284=
XM_011526018.1:c.702A>G	XP_011524320.1:p.Pro234=
XM_017025789.1:c.852A>G	XP_016881278.1:p.Pro284=
NM_004046.6:c.852A>G MANE Select	NP_004037.1:p.Pro284=
NM_001001935.3:c.702A>G	NP_001001935.1:p.Pro234=
NM_001257334.2:c.786A>G	NP_001244263.1:p.Pro262=
NM_001001937.2:c.852A>G	NP_001001937.1:p.Pro284=
NM_001257335.2:c.702A>G	NP_001244264.1:p.Pro234=