Canonical Allele Identifier: CA2685914996

Gene: ERICH1

Linked Data

• gnomAD v4: 8-615832-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615832A>C , CM000670.2:g.615832A>C	GRCh38
NC_000008.10:g.565832A>C , CM000670.1:g.565832A>C	GRCh37
NC_000008.9:g.555832A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-548T>G	ENSP00000428635.1:n.977-548T>G
ENST00000523415.5:c.2547T>G
NM_001303100.1:c.*739T>G	NP_001290029.1:n.*739T>G
XM_011534732.1:c.1442-548T>G	XP_011533034.1:n.1442-548T>G
XM_011534735.1:c.*2174T>G	XP_011533037.1:n.*2174T>G
XM_011534735.3:c.*2174T>G	XP_011533037.1:n.*2174T>G
XM_017013124.2:c.1457-548T>G	XP_016868613.1:n.1457-548T>G
NM_001303100.2:c.*739T>G	NP_001290029.1:n.*739T>G