Canonical Allele Identifier: CA579237340
Gene: ERICH1 HGNC NCBI

Linked Data

dbSNP Id: rs544296292
gnomAD v2: 8-565728-C-G
gnomAD v3: 8-615728-C-G
gnomAD v4: 8-615728-C-G
MyVariant Identifiers: chr8:g.565728C>G (hg19) chr8:g.615728C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.615728C>G , CM000670.2:g.615728C>G GRCh38
NC_000008.10:g.565728C>G , CM000670.1:g.565728C>G GRCh37
NC_000008.9:g.555728C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000522706.5:c.977-444G>C ENSP00000428635.1:n.977-444G>C
ENST00000523415.5:c.2651G>C
NM_001303100.1:c.*843G>C NP_001290029.1:n.*843G>C
XM_011534732.1:c.1442-444G>C XP_011533034.1:n.1442-444G>C
XM_011534735.1:c.*2278G>C XP_011533037.1:n.*2278G>C
XM_011534735.3:c.*2278G>C XP_011533037.1:n.*2278G>C
XM_017013124.2:c.1457-444G>C XP_016868613.1:n.1457-444G>C
NM_001303100.2:c.*843G>C NP_001290029.1:n.*843G>C
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