Canonical Allele Identifier: CA10627695

Gene: ELOVL4

Linked Data

• ClinVar Variation Id: 358147
• ClinVar RCV Id: RCV000356888 ; RCV000762423
• dbSNP Id: rs886061802
• gnomAD v4: 6-79921664-A-G
• MyVariant Identifiers: chr6:g.80631381A>G (hg19) ; chr6:g.79921664A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79921664A>G , CM000668.2:g.79921664A>G	GRCh38
NC_000006.11:g.80631381A>G , CM000668.1:g.80631381A>G	GRCh37
NC_000006.10:g.80688100A>G	NCBI36
NG_009108.1:g.30935T>C
NG_009108.2:g.30935T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369816.5:c.502T>C MANE Select	ENSP00000358831.4:p.Leu168=
ENST00000369816.4:c.502T>C	ENSP00000358831.4:p.Leu168=
NM_022726.3:c.502T>C	NP_073563.1:p.Leu168=
NM_022726.4:c.502T>C MANE Select	NP_073563.1:p.Leu168=