Canonical Allele Identifier: CA378818368

Gene: ECHS1

Linked Data

• COSMIC: COSM4920678
• MyVariant Identifiers: chr10:g.135179489C>G (hg19) ; chr10:g.133365985C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133365985C>G , CM000672.2:g.133365985C>G	GRCh38
NC_000010.10:g.135179489C>G , CM000672.1:g.135179489C>G	GRCh37
NC_000010.9:g.135029479C>G	NCBI36
NG_042077.1:g.12420G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368547.4:c.730G>C MANE Select	ENSP00000357535.3:p.Val244Leu
ENST00000368547.3:c.730G>C	ENSP00000357535.3:p.Val244Leu
NM_004092.3:c.730G>C	NP_004083.3:p.Val244Leu
XR_002956965.1:n.1586G>C
NM_004092.4:c.730G>C MANE Select	NP_004083.3:p.Val244Leu