Canonical Allele Identifier: CA12208854
Gene: EYA4 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.133240508T>G
GRCh37 chr6:g.133561646T>G
gnomAD v2:
6:133561646 T / G
gnomAD v3:
6:133240508 T / G
gnomAD v4:
chr6-133240508-T-G
Joint Max Group AF 0.59257346 (EAS)
Genomes Max Group AF 0.59257346 (EAS)
Exomes Max Group AF 0.38556286 (NFE)
dbSNP:
3813346
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.133240508T>G , CM000668.2:g.133240508T>G GRCh38
NC_000006.11:g.133561646T>G , CM000668.1:g.133561646T>G GRCh37
NC_000006.10:g.133603339T>G NCBI36
NG_011596.1:g.4152T>G
NG_011596.2:g.4152T>G

Transcript Alleles

HGVS Amino-acid Change
XM_017010368.2:c.-517T>G XP_016865857.1:n.-517T>G
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