Canonical Allele Identifier: CA170202413

Gene: ERICH1

Linked Data

• dbSNP Id: rs566662084
• gnomAD v3: 8-616218-A-C
• gnomAD v4: 8-616218-A-C
• MyVariant Identifiers: chr8:g.566218A>C (hg19) ; chr8:g.616218A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616218A>C , CM000670.2:g.616218A>C	GRCh38
NC_000008.10:g.566218A>C , CM000670.1:g.566218A>C	GRCh37
NC_000008.9:g.556218A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000522706.5:c.977-934T>G	ENSP00000428635.1:n.977-934T>G
ENST00000523415.5:c.2161T>G
NM_001303100.1:c.*353T>G	NP_001290029.1:n.*353T>G
XM_011534732.1:c.1442-934T>G	XP_011533034.1:n.1442-934T>G
XM_011534735.1:c.*1788T>G	XP_011533037.1:n.*1788T>G
XM_011534735.3:c.*1788T>G	XP_011533037.1:n.*1788T>G
XM_017013124.2:c.1457-934T>G	XP_016868613.1:n.1457-934T>G
NM_001303100.2:c.*353T>G	NP_001290029.1:n.*353T>G