Canonical Allele Identifier: CA170201808
Gene: ERICH1 HGNC NCBI

Linked Data

dbSNP Id: rs569239649
gnomAD v3: 8-615840-A-G
gnomAD v4: 8-615840-A-G
MyVariant Identifiers: chr8:g.565840A>G (hg19) chr8:g.615840A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.615840A>G , CM000670.2:g.615840A>G GRCh38
NC_000008.10:g.565840A>G , CM000670.1:g.565840A>G GRCh37
NC_000008.9:g.555840A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-556T>C ENSP00000428635.1:n.977-556T>C
ENST00000523415.5:c.2539T>C
NM_001303100.1:c.*731T>C NP_001290029.1:n.*731T>C
XM_011534732.1:c.1442-556T>C XP_011533034.1:n.1442-556T>C
XM_011534735.1:c.*2166T>C XP_011533037.1:n.*2166T>C
XM_011534735.3:c.*2166T>C XP_011533037.1:n.*2166T>C
XM_017013124.2:c.1457-556T>C XP_016868613.1:n.1457-556T>C
NM_001303100.2:c.*731T>C NP_001290029.1:n.*731T>C
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