Canonical Allele Identifier: CA12368608
Gene: ATP6V1FP1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.34715858G>A
GRCh37 chr6:g.34683635G>A
gnomAD v2:
6:34683635 G / A
gnomAD v3:
6:34715858 G / A
gnomAD v4:
chr6-34715858-G-A
Joint Max Group AF 0.96831055 (EAS)
Genomes Max Group AF 0.96596148 (EAS)
Exomes Max Group AF 0.9397497 (EAS)
dbSNP:
6938239
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.34715858G>A , CM000668.2:g.34715858G>A GRCh38
NC_000006.11:g.34683635G>A , CM000668.1:g.34683635G>A GRCh37
NC_000006.10:g.34791613G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334441.4:n.246G>A
XR_926727.1:n.118-2676C>T
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