Canonical Allele Identifier: CA167113384
Gene: ATP6V0A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.138706696G>T
GRCh37 chr7:g.138391441G>T
Revel Score:
ENST00000310018 (MANE Select) 0.919
ENST00000393054 0.919
ENST00000353492 0.919
gnomAD v4:
chr7-138706696-G-T
Joint Max Group AF 0.00001426 (SAS)
Exomes Max Group AF 0.00001583 (SAS)
ClinVar RCV:
RCV000987977
ClinVar Variation:
802368
dbSNP:
934266733
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138706696G>T , CM000669.2:g.138706696G>T GRCh38
NC_000007.13:g.138391441G>T , CM000669.1:g.138391441G>T GRCh37
NC_000007.12:g.138041981G>T NCBI36
NG_008145.1:g.96501C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310018.7:c.2451C>A MANE Select ENSP00000308122.2:p.Phe817Leu
ENST00000478480.2:c.*16C>A ENSP00000495261.1:n.*16C>A
ENST00000644341.1:c.1677C>A ENSP00000495642.1:p.Phe559Leu
ENST00000645515.1:c.2451C>A ENSP00000496421.1:p.Phe817Leu
ENST00000647427.1:c.1226C>A ENSP00000496259.1:n.1226C>A
ENST00000310018.6:c.2451C>A ENSP00000308122.2:p.Phe817Leu
ENST00000353492.4:c.2451C>A ENSP00000253856.6:p.Phe817Leu
ENST00000393054.5:c.2451C>A ENSP00000376774.1:p.Phe817Leu
NM_020632.2:c.2451C>A NP_065683.2:p.Phe817Leu
NM_130840.2:c.2451C>A NP_570855.2:p.Phe817Leu
NM_130841.2:c.2451C>A NP_570856.2:p.Phe817Leu
XM_005250393.1:c.2451C>A XP_005250450.1:p.Phe817Leu
XM_005250394.2:c.2451C>A XP_005250451.1:p.Phe817Leu
XM_005250394.3:c.2451C>A XP_005250451.1:p.Phe817Leu
NM_020632.3:c.2451C>A MANE Select NP_065683.2:p.Phe817Leu
NM_130840.3:c.2451C>A NP_570855.2:p.Phe817Leu
NM_130841.3:c.2451C>A NP_570856.2:p.Phe817Leu
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