Canonical Allele Identifier: CA152021
Gene: ATXN7 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.63996406G>A
GRCh37 chr3:g.63982082G>A
Revel Score:
ENST00000398590 0.074
ENST00000295900 0.074
ENST00000487717 0.074
ENST00000538065 0.074
ENST00000484332 0.074
ENST00000522345 0.074
gnomAD v2:
3:63982082 G / A
gnomAD v3:
3:63996406 G / A
gnomAD v4:
chr3-63996406-G-A
Joint Max Group AF 0.57776046 (AFR)
Genomes Max Group AF 0.57216734 (AFR)
Exomes Max Group AF 0.58046305 (AFR)
ClinVar RCV:
RCV000116488
ClinVar Variation:
128518
dbSNP:
3774729
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.63996406G>A , CM000665.2:g.63996406G>A GRCh38
NC_000003.11:g.63982082G>A , CM000665.1:g.63982082G>A GRCh37
NC_000003.10:g.63957122G>A NCBI36
NG_008227.1:g.136850G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000522345.2:c.2584G>A ENSP00000428067.2:p.Val862Met
ENST00000674280.1:c.2584G>A MANE Select ENSP00000501377.1:p.Val862Met
ENST00000295900.10:c.2584G>A ENSP00000295900.6:p.Val862Met
ENST00000474112.5:n.3137G>A
ENST00000484332.1:c.2149G>A ENSP00000428277.1:p.Val717Met
ENST00000487717.5:c.2584G>A ENSP00000420234.1:p.Val862Met
ENST00000522345.1:c.97G>A ENSP00000428067.1:p.Val33Met
ENST00000538065.5:c.2584G>A ENSP00000439585.1:p.Val862Met
NM_000333.3:c.2584G>A NP_000324.1:p.Val862Met
NM_001128149.2:c.2149G>A NP_001121621.2:p.Val717Met
NM_001177387.1:c.2584G>A NP_001170858.1:p.Val862Met
NM_000333.4:c.2584G>A NP_000324.1:p.Val862Met
NM_001128149.3:c.2149G>A NP_001121621.2:p.Val717Met
NM_001377405.1:c.2584G>A MANE Select NP_001364334.1:p.Val862Met
NM_001377406.1:c.2584G>A NP_001364335.1:p.Val862Met
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