Canonical Allele Identifier: CA8950780

Gene: ATP5F1A

Linked Data

• ClinVar Variation Id: 2046885
• ClinVar RCV Id: RCV002913952
• dbSNP Id: rs11541929
• ExAC: 18:43669662 G / C
• gnomAD v2: 18-43669662-G-C
• gnomAD v3: 18-46089696-G-C
• gnomAD v4: 18-46089696-G-C
• MyVariant Identifiers: chr18:g.43669662G>C (hg19) ; chr18:g.46089696G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46089696G>C , CM000680.2:g.46089696G>C	GRCh38
NC_000018.9:g.43669662G>C , CM000680.1:g.43669662G>C	GRCh37
NC_000018.8:g.41923660G>C	NCBI36
NG_041769.1:g.19538C>G
NG_041769.2:g.24538C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398752.11:c.520C>G MANE Select	ENSP00000381736.5:p.Leu174Val
ENST00000282050.6:c.520C>G	ENSP00000282050.2:p.Leu174Val
ENST00000398752.10:c.520C>G	ENSP00000381736.5:p.Leu174Val
ENST00000586592.5:c.*583C>G	ENSP00000466275.3:n.*583C>G
ENST00000589252.5:c.253C>G	ENSP00000466975.1:p.Leu85Val
ENST00000589611.1:n.728C>G
ENST00000589869.5:c.370C>G	ENSP00000465497.1:p.Leu124Val
ENST00000590156.5:c.*416C>G	ENSP00000466309.1:n.*416C>G
ENST00000590324.5:c.370C>G	ENSP00000465259.1:p.Leu124Val
ENST00000590406.5:c.520C>G	ENSP00000468458.1:p.Leu174Val
ENST00000590665.5:c.454C>G	ENSP00000467037.1:p.Leu152Val
ENST00000592364.5:c.226+2069C>G	ENSP00000468618.1:n.226+2069C>G
ENST00000593152.6:c.370C>G	ENSP00000465477.2:p.Leu124Val
NM_001001935.2:c.370C>G	NP_001001935.1:p.Leu124Val
NM_001001937.1:c.520C>G	NP_001001937.1:p.Leu174Val
NM_001257334.1:c.454C>G	NP_001244263.1:p.Leu152Val
NM_001257335.1:c.370C>G	NP_001244264.1:p.Leu124Val
NM_004046.5:c.520C>G	NP_004037.1:p.Leu174Val
XM_011526018.1:c.370C>G	XP_011524320.1:p.Leu124Val
XM_017025789.1:c.520C>G	XP_016881278.1:p.Leu174Val
NM_004046.6:c.520C>G MANE Select	NP_004037.1:p.Leu174Val
NM_001001935.3:c.370C>G	NP_001001935.1:p.Leu124Val
NM_001257334.2:c.454C>G	NP_001244263.1:p.Leu152Val
NM_001001937.2:c.520C>G	NP_001001937.1:p.Leu174Val
NM_001257335.2:c.370C>G	NP_001244264.1:p.Leu124Val