Canonical Allele Identifier: CA170202407
Gene: ERICH1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.616207T>C
GRCh37 chr8:g.566207T>C
gnomAD v2:
8:566207 T / C
gnomAD v3:
8:616207 T / C
gnomAD v4:
chr8-616207-T-C
Joint Max Group AF 0.07898343 (NFE)
Genomes Max Group AF 0.0752169 (NFE)
Exomes Max Group AF 0.09180841 (AMR)
dbSNP:
17666538
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616207T>C , CM000670.2:g.616207T>C GRCh38
NC_000008.10:g.566207T>C , CM000670.1:g.566207T>C GRCh37
NC_000008.9:g.556207T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-923A>G ENSP00000428635.1:n.977-923A>G
ENST00000523415.5:c.2172A>G
NM_001303100.1:c.*364A>G NP_001290029.1:n.*364A>G
XM_011534732.1:c.1442-923A>G XP_011533034.1:n.1442-923A>G
XM_011534735.1:c.*1799A>G XP_011533037.1:n.*1799A>G
XM_011534735.3:c.*1799A>G XP_011533037.1:n.*1799A>G
XM_017013124.2:c.1457-923A>G XP_016868613.1:n.1457-923A>G
NM_001303100.2:c.*364A>G NP_001290029.1:n.*364A>G
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