Canonical Allele Identifier: CA579237456

Gene: ERICH1

Linked Data

• dbSNP Id: rs1455002026
• gnomAD v2: 8-566193-C-T
• gnomAD v3: 8-616193-C-T
• gnomAD v4: 8-616193-C-T
• MyVariant Identifiers: chr8:g.566193C>T (hg19) ; chr8:g.616193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616193C>T , CM000670.2:g.616193C>T	GRCh38
NC_000008.10:g.566193C>T , CM000670.1:g.566193C>T	GRCh37
NC_000008.9:g.556193C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-909G>A	ENSP00000428635.1:n.977-909G>A
ENST00000523415.5:c.2186G>A
NM_001303100.1:c.*378G>A	NP_001290029.1:n.*378G>A
XM_011534732.1:c.1442-909G>A	XP_011533034.1:n.1442-909G>A
XM_011534735.1:c.*1813G>A	XP_011533037.1:n.*1813G>A
XM_011534735.3:c.*1813G>A	XP_011533037.1:n.*1813G>A
XM_017013124.2:c.1457-909G>A	XP_016868613.1:n.1457-909G>A
NM_001303100.2:c.*378G>A	NP_001290029.1:n.*378G>A