Canonical Allele Identifier: CA579237429
Gene: ERICH1 HGNC NCBI

Linked Data

dbSNP Id: rs1195442038
gnomAD v2: 8-566018-G-C
gnomAD v3: 8-616018-G-C
gnomAD v4: 8-616018-G-C
MyVariant Identifiers: chr8:g.566018G>C (hg19) chr8:g.616018G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616018G>C , CM000670.2:g.616018G>C GRCh38
NC_000008.10:g.566018G>C , CM000670.1:g.566018G>C GRCh37
NC_000008.9:g.556018G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-734C>G ENSP00000428635.1:n.977-734C>G
ENST00000523415.5:c.2361C>G
NM_001303100.1:c.*553C>G NP_001290029.1:n.*553C>G
XM_011534732.1:c.1442-734C>G XP_011533034.1:n.1442-734C>G
XM_011534735.1:c.*1988C>G XP_011533037.1:n.*1988C>G
XM_011534735.3:c.*1988C>G XP_011533037.1:n.*1988C>G
XM_017013124.2:c.1457-734C>G XP_016868613.1:n.1457-734C>G
NM_001303100.2:c.*553C>G NP_001290029.1:n.*553C>G
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