Canonical Allele Identifier: CA10627695
Gene: ELOVL4 HGNC NCBI

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)
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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=
Search 100 bp 5'
Search 100 bp 3'