Canonical Allele Identifier: CA15571218
Gene: ERI1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.8900118T>C
GRCh37 chr8:g.8757628T>C
gnomAD v2:
8:8757628 T / C
gnomAD v3:
8:8900118 T / C
gnomAD v4:
chr8-8900118-T-C
Joint Max Group AF 0.58280864 (SAS)
Genomes Max Group AF 0.58280864 (SAS)
dbSNP:
96621
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.8900118T>C , CM000670.2:g.8900118T>C GRCh38
NC_000008.10:g.8757628T>C , CM000670.1:g.8757628T>C GRCh37
NC_000008.9:g.8795038T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017013949.1:c.-691-3378T>C XP_016869438.1:n.-691-3378T>C
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