Canonical Allele Identifier: CA2685915052
Gene: ERICH1 HGNC NCBI

Linked Data

gnomAD v4: 8-615908-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.615908G>A , CM000670.2:g.615908G>A GRCh38
NC_000008.10:g.565908G>A , CM000670.1:g.565908G>A GRCh37
NC_000008.9:g.555908G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-624C>T ENSP00000428635.1:n.977-624C>T
ENST00000523415.5:c.2471C>T
NM_001303100.1:c.*663C>T NP_001290029.1:n.*663C>T
XM_011534732.1:c.1442-624C>T XP_011533034.1:n.1442-624C>T
XM_011534735.1:c.*2098C>T XP_011533037.1:n.*2098C>T
XM_011534735.3:c.*2098C>T XP_011533037.1:n.*2098C>T
XM_017013124.2:c.1457-624C>T XP_016868613.1:n.1457-624C>T
NM_001303100.2:c.*663C>T NP_001290029.1:n.*663C>T