Canonical Allele Identifier: CA170078
Gene: ELOVL4 HGNC NCBI

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
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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
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