Canonical Allele Identifier: CA4504394
Gene: ATP6V0A4 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.138706603G>A
GRCh37 chr7:g.138391348G>A
gnomAD v2:
7:138391348 G / A
gnomAD v3:
7:138706603 G / A
gnomAD v4:
chr7-138706603-G-A
Joint Max Group AF 0.00001746 (AFR)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00001583 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138706603G>A , CM000669.2:g.138706603G>A GRCh38
NC_000007.13:g.138391348G>A , CM000669.1:g.138391348G>A GRCh37
NC_000007.12:g.138041888G>A NCBI36
NG_008145.1:g.96594C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000310018.7:c.*21C>T MANE Select ENSP00000308122.2:n.*21C>T
ENST00000478480.2:c.*109C>T ENSP00000495261.1:n.*109C>T
ENST00000644341.1:c.*21C>T ENSP00000495642.1:n.*21C>T
ENST00000645515.1:c.*21C>T ENSP00000496421.1:n.*21C>T
ENST00000647427.1:c.1319C>T ENSP00000496259.1:n.1319C>T
ENST00000310018.6:c.*21C>T ENSP00000308122.2:n.*21C>T
ENST00000353492.4:c.*21C>T ENSP00000253856.6:n.*21C>T
ENST00000393054.5:c.*21C>T ENSP00000376774.1:n.*21C>T
NM_020632.2:c.*21C>T NP_065683.2:n.*21C>T
NM_130840.2:c.*21C>T NP_570855.2:n.*21C>T
NM_130841.2:c.*21C>T NP_570856.2:n.*21C>T
XM_005250393.1:c.*21C>T XP_005250450.1:n.*21C>T
XM_005250394.2:c.*21C>T XP_005250451.1:n.*21C>T
XM_005250394.3:c.*21C>T XP_005250451.1:n.*21C>T
NM_020632.3:c.*21C>T MANE Select NP_065683.2:n.*21C>T
NM_130840.3:c.*21C>T NP_570855.2:n.*21C>T
NM_130841.3:c.*21C>T NP_570856.2:n.*21C>T
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