Canonical Allele Identifier: CA2685915211
Gene: ERICH1 HGNC NCBI

Linked Data

gnomAD v4: 8-616158-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616158T>G , CM000670.2:g.616158T>G GRCh38
NC_000008.10:g.566158T>G , CM000670.1:g.566158T>G GRCh37
NC_000008.9:g.556158T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-874A>C ENSP00000428635.1:n.977-874A>C
ENST00000523415.5:c.2221A>C
NM_001303100.1:c.*413A>C NP_001290029.1:n.*413A>C
XM_011534732.1:c.1442-874A>C XP_011533034.1:n.1442-874A>C
XM_011534735.1:c.*1848A>C XP_011533037.1:n.*1848A>C
XM_011534735.3:c.*1848A>C XP_011533037.1:n.*1848A>C
XM_017013124.2:c.1457-874A>C XP_016868613.1:n.1457-874A>C
NM_001303100.2:c.*413A>C NP_001290029.1:n.*413A>C