Canonical Allele Identifier: CA579237434
Gene: ERICH1 HGNC NCBI

Linked Data

dbSNP Id: rs1287866969
gnomAD v2: 8-566075-G-A
gnomAD v3: 8-616075-G-A
gnomAD v4: 8-616075-G-A
MyVariant Identifiers: chr8:g.566075G>A (hg19) chr8:g.616075G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.616075G>A , CM000670.2:g.616075G>A GRCh38
NC_000008.10:g.566075G>A , CM000670.1:g.566075G>A GRCh37
NC_000008.9:g.556075G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-791C>T ENSP00000428635.1:n.977-791C>T
ENST00000523415.5:c.2304C>T
NM_001303100.1:c.*496C>T NP_001290029.1:n.*496C>T
XM_011534732.1:c.1442-791C>T XP_011533034.1:n.1442-791C>T
XM_011534735.1:c.*1931C>T XP_011533037.1:n.*1931C>T
XM_011534735.3:c.*1931C>T XP_011533037.1:n.*1931C>T
XM_017013124.2:c.1457-791C>T XP_016868613.1:n.1457-791C>T
NM_001303100.2:c.*496C>T NP_001290029.1:n.*496C>T
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