Canonical Allele Identifier: CA402355251

Gene: ATP5F1A

Linked Data

• ClinVar Variation Id: 2753087
• ClinVar RCV Id: RCV003566709
• dbSNP Id: rs1159279185
• MyVariant Identifiers: chr18:g.43667364C>G (hg19) ; chr18:g.46087398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46087398C>G , CM000680.2:g.46087398C>G	GRCh38
NC_000018.9:g.43667364C>G , CM000680.1:g.43667364C>G	GRCh37
NC_000018.8:g.41921362C>G	NCBI36
NG_041769.1:g.21836G>C
NG_041769.2:g.26836G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.894G>C MANE Select	ENSP00000381736.5:p.Glu298Asp
ENST00000282050.6:c.894G>C	ENSP00000282050.2:p.Glu298Asp
ENST00000398752.10:c.894G>C	ENSP00000381736.5:p.Glu298Asp
ENST00000586523.1:n.1299G>C
ENST00000586592.5:c.*957G>C	ENSP00000466275.3:n.*957G>C
ENST00000590156.5:c.*790G>C	ENSP00000466309.1:n.*790G>C
ENST00000590665.5:c.828G>C	ENSP00000467037.1:p.Glu276Asp
ENST00000592364.5:c.227-334G>C	ENSP00000468618.1:n.227-334G>C
ENST00000593152.6:c.744G>C	ENSP00000465477.2:p.Glu248Asp
NM_001001935.2:c.744G>C	NP_001001935.1:p.Glu248Asp
NM_001001937.1:c.894G>C	NP_001001937.1:p.Glu298Asp
NM_001257334.1:c.828G>C	NP_001244263.1:p.Glu276Asp
NM_001257335.1:c.744G>C	NP_001244264.1:p.Glu248Asp
NM_004046.5:c.894G>C	NP_004037.1:p.Glu298Asp
XM_011526018.1:c.744G>C	XP_011524320.1:p.Glu248Asp
XM_017025789.1:c.894G>C	XP_016881278.1:p.Glu298Asp
NM_004046.6:c.894G>C MANE Select	NP_004037.1:p.Glu298Asp
NM_001001935.3:c.744G>C	NP_001001935.1:p.Glu248Asp
NM_001257334.2:c.828G>C	NP_001244263.1:p.Glu276Asp
NM_001001937.2:c.894G>C	NP_001001937.1:p.Glu298Asp
NM_001257335.2:c.744G>C	NP_001244264.1:p.Glu248Asp