Canonical Allele Identifier: CA8950699

Gene: ATP5F1A

Linked Data

• ClinVar Variation Id: 1903321
• ClinVar RCV Id: RCV002586253
• dbSNP Id: rs200369148
• ExAC: 18:43667412 A / G
• gnomAD v2: 18-43667412-A-G
• gnomAD v3: 18-46087446-A-G
• gnomAD v4: 18-46087446-A-G
• MyVariant Identifiers: chr18:g.43667412A>G (hg19) ; chr18:g.46087446A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087446A>G , CM000680.2:g.46087446A>G	GRCh38
NC_000018.9:g.43667412A>G , CM000680.1:g.43667412A>G	GRCh37
NC_000018.8:g.41921410A>G	NCBI36
NG_041769.1:g.21788T>C
NG_041769.2:g.26788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.846T>C MANE Select	ENSP00000381736.5:p.Ala282=
ENST00000282050.6:c.846T>C	ENSP00000282050.2:p.Ala282=
ENST00000398752.10:c.846T>C	ENSP00000381736.5:p.Ala282=
ENST00000586523.1:n.1251T>C
ENST00000586592.5:c.*909T>C	ENSP00000466275.3:n.*909T>C
ENST00000589252.5:c.579T>C	ENSP00000466975.1:p.Ala193=
ENST00000590156.5:c.*742T>C	ENSP00000466309.1:n.*742T>C
ENST00000590665.5:c.780T>C	ENSP00000467037.1:p.Ala260=
ENST00000592364.5:c.227-382T>C	ENSP00000468618.1:n.227-382T>C
ENST00000593152.6:c.696T>C	ENSP00000465477.2:p.Ala232=
NM_001001935.2:c.696T>C	NP_001001935.1:p.Ala232=
NM_001001937.1:c.846T>C	NP_001001937.1:p.Ala282=
NM_001257334.1:c.780T>C	NP_001244263.1:p.Ala260=
NM_001257335.1:c.696T>C	NP_001244264.1:p.Ala232=
NM_004046.5:c.846T>C	NP_004037.1:p.Ala282=
XM_011526018.1:c.696T>C	XP_011524320.1:p.Ala232=
XM_017025789.1:c.846T>C	XP_016881278.1:p.Ala282=
NM_004046.6:c.846T>C MANE Select	NP_004037.1:p.Ala282=
NM_001001935.3:c.696T>C	NP_001001935.1:p.Ala232=
NM_001257334.2:c.780T>C	NP_001244263.1:p.Ala260=
NM_001001937.2:c.846T>C	NP_001001937.1:p.Ala282=
NM_001257335.2:c.696T>C	NP_001244264.1:p.Ala232=