Canonical Allele Identifier: CA853937405

Gene: ERICH1

Linked Data

• dbSNP Id: rs1191666328
• gnomAD v3: 8-616133-T-A
• gnomAD v4: 8-616133-T-A
• MyVariant Identifiers: chr8:g.566133T>A (hg19) ; chr8:g.616133T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616133T>A , CM000670.2:g.616133T>A	GRCh38
NC_000008.10:g.566133T>A , CM000670.1:g.566133T>A	GRCh37
NC_000008.9:g.556133T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000522706.5:c.977-849A>T	ENSP00000428635.1:n.977-849A>T
ENST00000523415.5:c.2246A>T
NM_001303100.1:c.*438A>T	NP_001290029.1:n.*438A>T
XM_011534732.1:c.1442-849A>T	XP_011533034.1:n.1442-849A>T
XM_011534735.1:c.*1873A>T	XP_011533037.1:n.*1873A>T
XM_011534735.3:c.*1873A>T	XP_011533037.1:n.*1873A>T
XM_017013124.2:c.1457-849A>T	XP_016868613.1:n.1457-849A>T
NM_001303100.2:c.*438A>T	NP_001290029.1:n.*438A>T