Canonical Allele Identifier: CA3901551

Gene: ELOVL4

Linked Data

• ClinVar Variation Id: 358148
• ClinVar RCV Id: RCV000262008 ; RCV000765894 ; RCV000595647 ; RCV002524509
• dbSNP Id: rs148018494
• ExAC: 6:80634687 A / T
• gnomAD v2: 6-80634687-A-T
• gnomAD v3: 6-79924970-A-T
• gnomAD v4: 6-79924970-A-T
• MyVariant Identifiers: chr6:g.80634687A>T (hg19) ; chr6:g.79924970A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79924970A>T , CM000668.2:g.79924970A>T	GRCh38
NC_000006.11:g.80634687A>T , CM000668.1:g.80634687A>T	GRCh37
NC_000006.10:g.80691406A>T	NCBI36
NG_009108.1:g.27629T>A
NG_009108.2:g.27629T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369816.5:c.351T>A MANE Select	ENSP00000358831.4:p.Asn117Lys
ENST00000369816.4:c.351T>A	ENSP00000358831.4:p.Asn117Lys
NM_022726.3:c.351T>A	NP_073563.1:p.Asn117Lys
NM_022726.4:c.351T>A MANE Select	NP_073563.1:p.Asn117Lys