Canonical Allele Identifier: CA579237430
Gene: ERICH1 HGNC NCBI

Linked Data

dbSNP Id: rs1373763226
gnomAD v2: 8-566032-C-T
gnomAD v3: 8-616032-C-T
gnomAD v4: 8-616032-C-T
MyVariant Identifiers: chr8:g.566032C>T (hg19) chr8:g.616032C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616032C>T , CM000670.2:g.616032C>T GRCh38
NC_000008.10:g.566032C>T , CM000670.1:g.566032C>T GRCh37
NC_000008.9:g.556032C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000522706.5:c.977-748G>A ENSP00000428635.1:n.977-748G>A
ENST00000523415.5:c.2347G>A
NM_001303100.1:c.*539G>A NP_001290029.1:n.*539G>A
XM_011534732.1:c.1442-748G>A XP_011533034.1:n.1442-748G>A
XM_011534735.1:c.*1974G>A XP_011533037.1:n.*1974G>A
XM_011534735.3:c.*1974G>A XP_011533037.1:n.*1974G>A
XM_017013124.2:c.1457-748G>A XP_016868613.1:n.1457-748G>A
NM_001303100.2:c.*539G>A NP_001290029.1:n.*539G>A
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