Canonical Allele Identifier: CA202435392
Gene: ATP5F1C HGNC NCBI

Linked Data

dbSNP Id: rs995039101
gnomAD v3: 10-7793942-C-T
gnomAD v4: 10-7793942-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.7793942C>T , CM000672.2:g.7793942C>T GRCh38
NC_000010.10:g.7835905C>T , CM000672.1:g.7835905C>T GRCh37
NC_000010.9:g.7875911C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356708.12:c.57-2179C>T MANE Select ENSP00000349142.7:n.57-2179C>T
ENST00000335698.4:c.57-2179C>T ENSP00000338568.4:n.57-2179C>T
ENST00000356708.11:c.57-2179C>T ENSP00000349142.7:n.57-2179C>T
ENST00000460362.5:n.90-2179C>T
ENST00000460820.6:n.81-2179C>T
ENST00000462760.1:n.106-2179C>T
ENST00000465936.5:n.86-2179C>T
ENST00000472202.1:n.55-2179C>T
ENST00000493053.5:n.118-3105C>T
NM_001001973.1:c.57-2179C>T NP_001001973.1:n.57-2179C>T
NM_005174.2:c.57-2179C>T NP_005165.1:n.57-2179C>T
XM_011519490.1:c.-50-3105C>T XP_011517792.1:n.-50-3105C>T
NM_001001973.2:c.57-2179C>T NP_001001973.1:n.57-2179C>T
NM_001320886.1:c.-50-3105C>T NP_001307815.1:n.-50-3105C>T
NM_005174.3:c.57-2179C>T NP_005165.1:n.57-2179C>T
XM_017016290.1:c.-50-3105C>T XP_016871779.1:n.-50-3105C>T
NM_001001973.3:c.57-2179C>T MANE Select NP_001001973.1:n.57-2179C>T
NM_001320886.2:c.-50-3105C>T NP_001307815.1:n.-50-3105C>T
NM_005174.4:c.57-2179C>T NP_005165.1:n.57-2179C>T