Canonical Allele Identifier: CA579237440

Gene: ERICH1

Linked Data

• dbSNP Id: rs1260309566
• gnomAD v2: 8-566127-T-C
• gnomAD v3: 8-616127-T-C
• gnomAD v4: 8-616127-T-C
• MyVariant Identifiers: chr8:g.566127T>C (hg19) ; chr8:g.616127T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616127T>C , CM000670.2:g.616127T>C	GRCh38
NC_000008.10:g.566127T>C , CM000670.1:g.566127T>C	GRCh37
NC_000008.9:g.556127T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000522706.5:c.977-843A>G	ENSP00000428635.1:n.977-843A>G
ENST00000523415.5:c.2252A>G
NM_001303100.1:c.*444A>G	NP_001290029.1:n.*444A>G
XM_011534732.1:c.1442-843A>G	XP_011533034.1:n.1442-843A>G
XM_011534735.1:c.*1879A>G	XP_011533037.1:n.*1879A>G
XM_011534735.3:c.*1879A>G	XP_011533037.1:n.*1879A>G
XM_017013124.2:c.1457-843A>G	XP_016868613.1:n.1457-843A>G
NM_001303100.2:c.*444A>G	NP_001290029.1:n.*444A>G