Canonical Allele Identifier: CA913426940
Gene: ATP5F1C HGNC NCBI

Linked Data

dbSNP Id: rs1564330752
gnomAD v2: 10-7836127-C-T
gnomAD v3: 10-7794164-C-T
gnomAD v4: 10-7794164-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.7794164C>T , CM000672.2:g.7794164C>T GRCh38
NC_000010.10:g.7836127C>T , CM000672.1:g.7836127C>T GRCh37
NC_000010.9:g.7876133C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356708.12:c.57-1957C>T MANE Select ENSP00000349142.7:n.57-1957C>T
ENST00000335698.4:c.57-1957C>T ENSP00000338568.4:n.57-1957C>T
ENST00000356708.11:c.57-1957C>T ENSP00000349142.7:n.57-1957C>T
ENST00000460362.5:n.90-1957C>T
ENST00000460820.6:n.81-1957C>T
ENST00000462760.1:n.106-1957C>T
ENST00000465936.5:n.86-1957C>T
ENST00000472202.1:n.55-1957C>T
ENST00000493053.5:n.118-2883C>T
NM_001001973.1:c.57-1957C>T NP_001001973.1:n.57-1957C>T
NM_005174.2:c.57-1957C>T NP_005165.1:n.57-1957C>T
XM_011519490.1:c.-50-2883C>T XP_011517792.1:n.-50-2883C>T
NM_001001973.2:c.57-1957C>T NP_001001973.1:n.57-1957C>T
NM_001320886.1:c.-50-2883C>T NP_001307815.1:n.-50-2883C>T
NM_005174.3:c.57-1957C>T NP_005165.1:n.57-1957C>T
XM_017016290.1:c.-50-2883C>T XP_016871779.1:n.-50-2883C>T
NM_001001973.3:c.57-1957C>T MANE Select NP_001001973.1:n.57-1957C>T
NM_001320886.2:c.-50-2883C>T NP_001307815.1:n.-50-2883C>T
NM_005174.4:c.57-1957C>T NP_005165.1:n.57-1957C>T