Canonical Allele Identifier: CA2685914924

Gene: ERICH1

Linked Data

• gnomAD v4: 8-615726-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615726C>A , CM000670.2:g.615726C>A	GRCh38
NC_000008.10:g.565726C>A , CM000670.1:g.565726C>A	GRCh37
NC_000008.9:g.555726C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-442G>T	ENSP00000428635.1:n.977-442G>T
ENST00000523415.5:c.2653G>T
NM_001303100.1:c.*845G>T	NP_001290029.1:n.*845G>T
XM_011534732.1:c.1442-442G>T	XP_011533034.1:n.1442-442G>T
XM_011534735.1:c.*2280G>T	XP_011533037.1:n.*2280G>T
XM_011534735.3:c.*2280G>T	XP_011533037.1:n.*2280G>T
XM_017013124.2:c.1457-442G>T	XP_016868613.1:n.1457-442G>T
NM_001303100.2:c.*845G>T	NP_001290029.1:n.*845G>T