Canonical Allele Identifier: CA170202035

Gene: ERICH1

Linked Data

• dbSNP Id: rs767074591
• gnomAD v2: 8-565989-G-T
• gnomAD v3: 8-615989-G-T
• gnomAD v4: 8-615989-G-T
• MyVariant Identifiers: chr8:g.565989G>T (hg19) ; chr8:g.615989G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615989G>T , CM000670.2:g.615989G>T	GRCh38
NC_000008.10:g.565989G>T , CM000670.1:g.565989G>T	GRCh37
NC_000008.9:g.555989G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-705C>A	ENSP00000428635.1:n.977-705C>A
ENST00000523415.5:c.2390C>A
NM_001303100.1:c.*582C>A	NP_001290029.1:n.*582C>A
XM_011534732.1:c.1442-705C>A	XP_011533034.1:n.1442-705C>A
XM_011534735.1:c.*2017C>A	XP_011533037.1:n.*2017C>A
XM_011534735.3:c.*2017C>A	XP_011533037.1:n.*2017C>A
XM_017013124.2:c.1457-705C>A	XP_016868613.1:n.1457-705C>A
NM_001303100.2:c.*582C>A	NP_001290029.1:n.*582C>A