Canonical Allele Identifier: CA170202335

Gene: ERICH1

Linked Data

• dbSNP Id: rs187911631
• gnomAD v2: 8-566153-A-G
• gnomAD v3: 8-616153-A-G
• gnomAD v4: 8-616153-A-G
• MyVariant Identifiers: chr8:g.566153A>G (hg19) ; chr8:g.616153A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616153A>G , CM000670.2:g.616153A>G	GRCh38
NC_000008.10:g.566153A>G , CM000670.1:g.566153A>G	GRCh37
NC_000008.9:g.556153A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-869T>C	ENSP00000428635.1:n.977-869T>C
ENST00000523415.5:c.2226T>C
NM_001303100.1:c.*418T>C	NP_001290029.1:n.*418T>C
XM_011534732.1:c.1442-869T>C	XP_011533034.1:n.1442-869T>C
XM_011534735.1:c.*1853T>C	XP_011533037.1:n.*1853T>C
XM_011534735.3:c.*1853T>C	XP_011533037.1:n.*1853T>C
XM_017013124.2:c.1457-869T>C	XP_016868613.1:n.1457-869T>C
NM_001303100.2:c.*418T>C	NP_001290029.1:n.*418T>C