Canonical Allele Identifier: CA10611659
Gene: PARK7 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.7961680G>A
GRCh37 chr1:g.8021740G>A
gnomAD v2:
1:8021740 G / A
gnomAD v3:
1:7961680 G / A
gnomAD v4:
chr1-7961680-G-A
Joint Max Group AF 0.33567341 (AFR)
Genomes Max Group AF 0.33563575 (AFR)
Exomes Max Group AF 0.21341925 (AFR)
ClinVar RCV:
RCV000287311
RCV001689983
ClinVar Variation:
298111
dbSNP:
17523802
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7961680G>A , CM000663.2:g.7961680G>A GRCh38
NC_000001.10:g.8021740G>A , CM000663.1:g.8021740G>A GRCh37
NC_000001.9:g.7944327G>A NCBI36
NG_008271.1:g.5027G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338639.9:c.-137G>A ENSP00000340278.5:n.-137G>A
ENST00000460192.5:n.18G>A
ENST00000493373.5:c.-23-1083G>A ENSP00000465404.1:n.-23-1083G>A
NM_001123377.1:c.-79G>A NP_001116849.1:n.-79G>A
NM_007262.4:c.-137G>A NP_009193.2:n.-137G>A
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