Canonical Allele Identifier: CA1756897602

Gene: ERICH1

Linked Data

• dbSNP Id: rs1796890227
• gnomAD v4: 8-616186-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616186G>A , CM000670.2:g.616186G>A	GRCh38
NC_000008.10:g.566186G>A , CM000670.1:g.566186G>A	GRCh37
NC_000008.9:g.556186G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-902C>T	ENSP00000428635.1:n.977-902C>T
ENST00000523415.5:c.2193C>T
NM_001303100.1:c.*385C>T	NP_001290029.1:n.*385C>T
XM_011534732.1:c.1442-902C>T	XP_011533034.1:n.1442-902C>T
XM_011534735.1:c.*1820C>T	XP_011533037.1:n.*1820C>T
XM_011534735.3:c.*1820C>T	XP_011533037.1:n.*1820C>T
XM_017013124.2:c.1457-902C>T	XP_016868613.1:n.1457-902C>T
NM_001303100.2:c.*385C>T	NP_001290029.1:n.*385C>T