Canonical Allele Identifier: CA364656512
Gene: ELOVL4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79921662C>A , CM000668.2:g.79921662C>A GRCh38
NC_000006.11:g.80631379C>A , CM000668.1:g.80631379C>A GRCh37
NC_000006.10:g.80688098C>A NCBI36
NG_009108.1:g.30937G>T
NG_009108.2:g.30937G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369816.5:c.504G>T MANE Select ENSP00000358831.4:p.Leu168Phe
ENST00000369816.4:c.504G>T ENSP00000358831.4:p.Leu168Phe
NM_022726.3:c.504G>T NP_073563.1:p.Leu168Phe
NM_022726.4:c.504G>T MANE Select NP_073563.1:p.Leu168Phe