Canonical Allele Identifier: CA4505143

Gene: ATP6V0A4

Linked Data

• ClinVar Variation Id: 1155488
• ClinVar RCV Id: RCV001497805 ; RCV002501714 ; RCV003980441
• dbSNP Id: rs767661194
• ExAC: 7:138447637 G / A
• gnomAD v2: 7-138447637-G-A
• gnomAD v3: 7-138762892-G-A
• gnomAD v4: 7-138762892-G-A
• MyVariant Identifiers: chr7:g.138447637G>A (hg19) ; chr7:g.138762892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138762892G>A , CM000669.2:g.138762892G>A	GRCh38
NC_000007.13:g.138447637G>A , CM000669.1:g.138447637G>A	GRCh37
NC_000007.12:g.138098177G>A	NCBI36
NG_008145.1:g.40305C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000310018.7:c.417+8C>T MANE Select	ENSP00000308122.2:n.417+8C>T
ENST00000645515.1:c.417+8C>T	ENSP00000496421.1:n.417+8C>T
ENST00000310018.6:c.417+8C>T	ENSP00000308122.2:n.417+8C>T
ENST00000353492.4:c.417+8C>T	ENSP00000253856.6:n.417+8C>T
ENST00000393054.5:c.417+8C>T	ENSP00000376774.1:n.417+8C>T
ENST00000483139.1:n.666+8C>T
NM_020632.2:c.417+8C>T	NP_065683.2:n.417+8C>T
NM_130840.2:c.417+8C>T	NP_570855.2:n.417+8C>T
NM_130841.2:c.417+8C>T	NP_570856.2:n.417+8C>T
XM_005250393.1:c.417+8C>T	XP_005250450.1:n.417+8C>T
XM_005250394.2:c.417+8C>T	XP_005250451.1:n.417+8C>T
XM_005250394.3:c.417+8C>T	XP_005250451.1:n.417+8C>T
NM_020632.3:c.417+8C>T MANE Select	NP_065683.2:n.417+8C>T
NM_130840.3:c.417+8C>T	NP_570855.2:n.417+8C>T
NM_130841.3:c.417+8C>T	NP_570856.2:n.417+8C>T