Canonical Allele Identifier: CA4505161

Gene: ATP6V0A4

Linked Data

• ClinVar Variation Id: 2404032
• ClinVar RCV Id: RCV002749933
• dbSNP Id: rs773766934
• ExAC: 7:138447767 C / G
• gnomAD v2: 7-138447767-C-G
• gnomAD v3: 7-138763022-C-G
• gnomAD v4: 7-138763022-C-G
• MyVariant Identifiers: chr7:g.138447767C>G (hg19) ; chr7:g.138763022C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138763022C>G , CM000669.2:g.138763022C>G	GRCh38
NC_000007.13:g.138447767C>G , CM000669.1:g.138447767C>G	GRCh37
NC_000007.12:g.138098307C>G	NCBI36
NG_008145.1:g.40175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310018.7:c.295G>C MANE Select	ENSP00000308122.2:p.Val99Leu
ENST00000645515.1:c.295G>C	ENSP00000496421.1:p.Val99Leu
ENST00000310018.6:c.295G>C	ENSP00000308122.2:p.Val99Leu
ENST00000353492.4:c.295G>C	ENSP00000253856.6:p.Val99Leu
ENST00000393054.5:c.295G>C	ENSP00000376774.1:p.Val99Leu
ENST00000483139.1:n.544G>C
NM_020632.2:c.295G>C	NP_065683.2:p.Val99Leu
NM_130840.2:c.295G>C	NP_570855.2:p.Val99Leu
NM_130841.2:c.295G>C	NP_570856.2:p.Val99Leu
XM_005250393.1:c.295G>C	XP_005250450.1:p.Val99Leu
XM_005250394.2:c.295G>C	XP_005250451.1:p.Val99Leu
XM_005250394.3:c.295G>C	XP_005250451.1:p.Val99Leu
NM_020632.3:c.295G>C MANE Select	NP_065683.2:p.Val99Leu
NM_130840.3:c.295G>C	NP_570855.2:p.Val99Leu
NM_130841.3:c.295G>C	NP_570856.2:p.Val99Leu