Canonical Allele Identifier: CA779755338

Gene: ATP5F1A

Linked Data

• dbSNP Id: rs1180691538
• gnomAD v3: 18-46100659-G-C
• gnomAD v4: 18-46100659-G-C
• MyVariant Identifiers: chr18:g.43680625G>C (hg19) ; chr18:g.46100659G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.46100659G>C , CM000680.2:g.46100659G>C	GRCh38
NC_000018.9:g.43680625G>C , CM000680.1:g.43680625G>C	GRCh37
NC_000018.8:g.41934623G>C	NCBI36
NG_041769.1:g.8575C>G
NG_041769.2:g.13575C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000282050.6:c.-48-2380C>G	ENSP00000282050.2:n.-48-2380C>G
ENST00000589869.5:c.-91+3478C>G	ENSP00000465497.1:n.-91+3478C>G
ENST00000590324.5:c.-277+3478C>G	ENSP00000465259.1:n.-277+3478C>G
ENST00000590406.5:c.-48-2380C>G	ENSP00000468458.1:n.-48-2380C>G
ENST00000590448.5:n.117+3478C>G
ENST00000592989.1:c.-83+3478C>G	ENSP00000467830.1:n.-83+3478C>G
NM_001001937.1:c.-48-2380C>G	NP_001001937.1:n.-48-2380C>G
XM_011526018.1:c.-91+3478C>G	XP_011524320.1:n.-91+3478C>G
NM_001001937.2:c.-48-2380C>G	NP_001001937.1:n.-48-2380C>G