Canonical Allele Identifier: CA591496904
Gene: ATP5F1C HGNC NCBI

Linked Data

dbSNP Id: rs1342203445
gnomAD v2: 10-7836062-C-G
gnomAD v3: 10-7794099-C-G
gnomAD v4: 10-7794099-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.7794099C>G , CM000672.2:g.7794099C>G GRCh38
NC_000010.10:g.7836062C>G , CM000672.1:g.7836062C>G GRCh37
NC_000010.9:g.7876068C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000356708.12:c.57-2022C>G MANE Select ENSP00000349142.7:n.57-2022C>G
ENST00000335698.4:c.57-2022C>G ENSP00000338568.4:n.57-2022C>G
ENST00000356708.11:c.57-2022C>G ENSP00000349142.7:n.57-2022C>G
ENST00000460362.5:n.90-2022C>G
ENST00000460820.6:n.81-2022C>G
ENST00000462760.1:n.106-2022C>G
ENST00000465936.5:n.86-2022C>G
ENST00000472202.1:n.55-2022C>G
ENST00000493053.5:n.118-2948C>G
NM_001001973.1:c.57-2022C>G NP_001001973.1:n.57-2022C>G
NM_005174.2:c.57-2022C>G NP_005165.1:n.57-2022C>G
XM_011519490.1:c.-50-2948C>G XP_011517792.1:n.-50-2948C>G
NM_001001973.2:c.57-2022C>G NP_001001973.1:n.57-2022C>G
NM_001320886.1:c.-50-2948C>G NP_001307815.1:n.-50-2948C>G
NM_005174.3:c.57-2022C>G NP_005165.1:n.57-2022C>G
XM_017016290.1:c.-50-2948C>G XP_016871779.1:n.-50-2948C>G
NM_001001973.3:c.57-2022C>G MANE Select NP_001001973.1:n.57-2022C>G
NM_001320886.2:c.-50-2948C>G NP_001307815.1:n.-50-2948C>G
NM_005174.4:c.57-2022C>G NP_005165.1:n.57-2022C>G