Canonical Allele Identifier: CA170202233
Gene: ERICH1 HGNC NCBI

Linked Data

dbSNP Id: rs890067137
gnomAD v2: 8-566078-A-G
gnomAD v3: 8-616078-A-G
gnomAD v4: 8-616078-A-G
MyVariant Identifiers: chr8:g.566078A>G (hg19) chr8:g.616078A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616078A>G , CM000670.2:g.616078A>G GRCh38
NC_000008.10:g.566078A>G , CM000670.1:g.566078A>G GRCh37
NC_000008.9:g.556078A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-794T>C ENSP00000428635.1:n.977-794T>C
ENST00000523415.5:c.2301T>C
NM_001303100.1:c.*493T>C NP_001290029.1:n.*493T>C
XM_011534732.1:c.1442-794T>C XP_011533034.1:n.1442-794T>C
XM_011534735.1:c.*1928T>C XP_011533037.1:n.*1928T>C
XM_011534735.3:c.*1928T>C XP_011533037.1:n.*1928T>C
XM_017013124.2:c.1457-794T>C XP_016868613.1:n.1457-794T>C
NM_001303100.2:c.*493T>C NP_001290029.1:n.*493T>C
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