Canonical Allele Identifier: CA170078

Gene: ELOVL4

Linked Data

• ClinVar Variation Id: 143056
• ClinVar RCV Id: RCV000132563 ; RCV002483274 ; RCV003479020
• dbSNP Id: rs587777598
• MyVariant Identifiers: chr6:g.80631379C>G (hg19) ; chr6:g.79921662C>G (hg38)
• PubMed: PMID:5048218 ; PMID:24566826

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79921662C>G , CM000668.2:g.79921662C>G	GRCh38
NC_000006.11:g.80631379C>G , CM000668.1:g.80631379C>G	GRCh37
NC_000006.10:g.80688098C>G	NCBI36
NG_009108.1:g.30937G>C
NG_009108.2:g.30937G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369816.5:c.504G>C MANE Select	ENSP00000358831.4:p.Leu168Phe
ENST00000369816.4:c.504G>C	ENSP00000358831.4:p.Leu168Phe
NM_022726.3:c.504G>C	NP_073563.1:p.Leu168Phe
NM_022726.4:c.504G>C MANE Select	NP_073563.1:p.Leu168Phe