Canonical Allele Identifier: CA2685915117

Gene: ERICH1

Linked Data

• gnomAD v4: 8-616042-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616042C>A , CM000670.2:g.616042C>A	GRCh38
NC_000008.10:g.566042C>A , CM000670.1:g.566042C>A	GRCh37
NC_000008.9:g.556042C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-758G>T	ENSP00000428635.1:n.977-758G>T
ENST00000523415.5:c.2337G>T
NM_001303100.1:c.*529G>T	NP_001290029.1:n.*529G>T
XM_011534732.1:c.1442-758G>T	XP_011533034.1:n.1442-758G>T
XM_011534735.1:c.*1964G>T	XP_011533037.1:n.*1964G>T
XM_011534735.3:c.*1964G>T	XP_011533037.1:n.*1964G>T
XM_017013124.2:c.1457-758G>T	XP_016868613.1:n.1457-758G>T
NM_001303100.2:c.*529G>T	NP_001290029.1:n.*529G>T