Canonical Allele Identifier: CA369380207
Gene: ATP6V0A4 HGNC NCBI
ClinVar RCV:
RCV001323520
ClinVar Variation:
1023476
dbSNP:
10258719
gnomAD v2:
7:138455988 A / T
gnomAD v3:
7:138771243 A / T
gnomAD v4:
chr7-138771243-A-T
Joint Max Group AF 0.00000359 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
MyVariant.info:
GRCh38 chr7:g.138771243A>T
GRCh37 chr7:g.138455988A>T
Revel Score:
ENST00000310018 (MANE Select) 0.223
ENST00000393054 0.223
ENST00000353492 0.223
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138771243A>T , CM000669.2:g.138771243A>T GRCh38
NC_000007.13:g.138455988A>T , CM000669.1:g.138455988A>T GRCh37
NC_000007.12:g.138106528A>T NCBI36
NG_008145.1:g.31954T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000310018.7:c.5T>A MANE Select ENSP00000308122.2:p.Val2Glu
ENST00000645515.1:c.5T>A ENSP00000496421.1:p.Val2Glu
ENST00000310018.6:c.5T>A ENSP00000308122.2:p.Val2Glu
ENST00000353492.4:c.5T>A ENSP00000253856.6:p.Val2Glu
ENST00000393054.5:c.5T>A ENSP00000376774.1:p.Val2Glu
ENST00000483139.1:n.254T>A
NM_020632.2:c.5T>A NP_065683.2:p.Val2Glu
NM_130840.2:c.5T>A NP_570855.2:p.Val2Glu
NM_130841.2:c.5T>A NP_570856.2:p.Val2Glu
XM_005250393.1:c.5T>A XP_005250450.1:p.Val2Glu
XM_005250394.2:c.5T>A XP_005250451.1:p.Val2Glu
XM_005250394.3:c.5T>A XP_005250451.1:p.Val2Glu
NM_020632.3:c.5T>A MANE Select NP_065683.2:p.Val2Glu
NM_130840.3:c.5T>A NP_570855.2:p.Val2Glu
NM_130841.3:c.5T>A NP_570856.2:p.Val2Glu
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