Canonical Allele Identifier: CA170201755

Gene: ERICH1

Linked Data

• dbSNP Id: rs560313940
• gnomAD v2: 8-565778-A-G
• gnomAD v3: 8-615778-A-G
• gnomAD v4: 8-615778-A-G
• MyVariant Identifiers: chr8:g.565778A>G (hg19) ; chr8:g.615778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615778A>G , CM000670.2:g.615778A>G	GRCh38
NC_000008.10:g.565778A>G , CM000670.1:g.565778A>G	GRCh37
NC_000008.9:g.555778A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-494T>C	ENSP00000428635.1:n.977-494T>C
ENST00000523415.5:c.2601T>C
NM_001303100.1:c.*793T>C	NP_001290029.1:n.*793T>C
XM_011534732.1:c.1442-494T>C	XP_011533034.1:n.1442-494T>C
XM_011534735.1:c.*2228T>C	XP_011533037.1:n.*2228T>C
XM_011534735.3:c.*2228T>C	XP_011533037.1:n.*2228T>C
XM_017013124.2:c.1457-494T>C	XP_016868613.1:n.1457-494T>C
NM_001303100.2:c.*793T>C	NP_001290029.1:n.*793T>C