Canonical Allele Identifier: CA170202323

Gene: ERICH1

Linked Data

• dbSNP Id: rs118144342
• gnomAD v2: 8-566125-A-T
• gnomAD v3: 8-616125-A-T
• gnomAD v4: 8-616125-A-T
• MyVariant Identifiers: chr8:g.566125A>T (hg19) ; chr8:g.616125A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616125A>T , CM000670.2:g.616125A>T	GRCh38
NC_000008.10:g.566125A>T , CM000670.1:g.566125A>T	GRCh37
NC_000008.9:g.556125A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-841T>A	ENSP00000428635.1:n.977-841T>A
ENST00000523415.5:c.2254T>A
NM_001303100.1:c.*446T>A	NP_001290029.1:n.*446T>A
XM_011534732.1:c.1442-841T>A	XP_011533034.1:n.1442-841T>A
XM_011534735.1:c.*1881T>A	XP_011533037.1:n.*1881T>A
XM_011534735.3:c.*1881T>A	XP_011533037.1:n.*1881T>A
XM_017013124.2:c.1457-841T>A	XP_016868613.1:n.1457-841T>A
NM_001303100.2:c.*446T>A	NP_001290029.1:n.*446T>A