Canonical Allele Identifier: CA170202334
Gene: ERICH1 HGNC NCBI

Linked Data

dbSNP Id: rs1035510739
gnomAD v2: 8-566151-T-A
gnomAD v3: 8-616151-T-A
gnomAD v4: 8-616151-T-A
MyVariant Identifiers: chr8:g.566151T>A (hg19) chr8:g.616151T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616151T>A , CM000670.2:g.616151T>A GRCh38
NC_000008.10:g.566151T>A , CM000670.1:g.566151T>A GRCh37
NC_000008.9:g.556151T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-867A>T ENSP00000428635.1:n.977-867A>T
ENST00000523415.5:c.2228A>T
NM_001303100.1:c.*420A>T NP_001290029.1:n.*420A>T
XM_011534732.1:c.1442-867A>T XP_011533034.1:n.1442-867A>T
XM_011534735.1:c.*1855A>T XP_011533037.1:n.*1855A>T
XM_011534735.3:c.*1855A>T XP_011533037.1:n.*1855A>T
XM_017013124.2:c.1457-867A>T XP_016868613.1:n.1457-867A>T
NM_001303100.2:c.*420A>T NP_001290029.1:n.*420A>T
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