Canonical Allele Identifier: CA170201773

Gene: ERICH1

Linked Data

• dbSNP Id: rs529635244
• gnomAD v2: 8-565824-G-A
• gnomAD v3: 8-615824-G-A
• gnomAD v4: 8-615824-G-A
• MyVariant Identifiers: chr8:g.565824G>A (hg19) ; chr8:g.615824G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.615824G>A , CM000670.2:g.615824G>A	GRCh38
NC_000008.10:g.565824G>A , CM000670.1:g.565824G>A	GRCh37
NC_000008.9:g.555824G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-540C>T	ENSP00000428635.1:n.977-540C>T
ENST00000523415.5:c.2555C>T
NM_001303100.1:c.*747C>T	NP_001290029.1:n.*747C>T
XM_011534732.1:c.1442-540C>T	XP_011533034.1:n.1442-540C>T
XM_011534735.1:c.*2182C>T	XP_011533037.1:n.*2182C>T
XM_011534735.3:c.*2182C>T	XP_011533037.1:n.*2182C>T
XM_017013124.2:c.1457-540C>T	XP_016868613.1:n.1457-540C>T
NM_001303100.2:c.*747C>T	NP_001290029.1:n.*747C>T