Canonical Allele Identifier: CA3901551
Gene: ELOVL4 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.79924970A>T
GRCh37 chr6:g.80634687A>T
Revel Score:
ENST00000369816 (MANE Select) 0.080
gnomAD v2:
6:80634687 A / T
gnomAD v3:
6:79924970 A / T
gnomAD v4:
chr6-79924970-A-T
Joint Max Group AF 0.0004062 (NFE)
Genomes Max Group AF 0.00039209 (NFE)
Exomes Max Group AF 0.00039958 (NFE)
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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
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