Canonical Allele Identifier: CA579237431

Gene: ERICH1

Linked Data

• dbSNP Id: rs1172384216
• gnomAD v2: 8-566054-T-A
• gnomAD v3: 8-616054-T-A
• gnomAD v4: 8-616054-T-A
• MyVariant Identifiers: chr8:g.566054T>A (hg19) ; chr8:g.616054T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.616054T>A , CM000670.2:g.616054T>A	GRCh38
NC_000008.10:g.566054T>A , CM000670.1:g.566054T>A	GRCh37
NC_000008.9:g.556054T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522706.5:c.977-770A>T	ENSP00000428635.1:n.977-770A>T
ENST00000523415.5:c.2325A>T
NM_001303100.1:c.*517A>T	NP_001290029.1:n.*517A>T
XM_011534732.1:c.1442-770A>T	XP_011533034.1:n.1442-770A>T
XM_011534735.1:c.*1952A>T	XP_011533037.1:n.*1952A>T
XM_011534735.3:c.*1952A>T	XP_011533037.1:n.*1952A>T
XM_017013124.2:c.1457-770A>T	XP_016868613.1:n.1457-770A>T
NM_001303100.2:c.*517A>T	NP_001290029.1:n.*517A>T