Canonical Allele Identifier: CA16605847

Gene: ECHS1

Linked Data

• ClinVar Variation Id: 387628
• ClinVar RCV Id: RCV000421742
• dbSNP Id: rs778498370
• gnomAD v2: 10-135186859-G-A
• gnomAD v3: 10-133373355-G-A
• gnomAD v4: 10-133373355-G-A
• MyVariant Identifiers: chr10:g.135186859G>A (hg19) ; chr10:g.133373355G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133373355G>A , CM000672.2:g.133373355G>A	GRCh38
NC_000010.10:g.135186859G>A , CM000672.1:g.135186859G>A	GRCh37
NC_000010.9:g.135036849G>A	NCBI36
NG_042077.1:g.5050C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.3:c.-22C>T	ENSP00000357535.3:n.-22C>T
NM_004092.3:c.-22C>T	NP_004083.3:n.-22C>T
XR_002956965.1:n.42C>T