Canonical Allele Identifier: CA364656531
Gene: ELOVL4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79921670A>G , CM000668.2:g.79921670A>G GRCh38
NC_000006.11:g.80631387A>G , CM000668.1:g.80631387A>G GRCh37
NC_000006.10:g.80688106A>G NCBI36
NG_009108.1:g.30929T>C
NG_009108.2:g.30929T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369816.5:c.496T>C MANE Select ENSP00000358831.4:p.Phe166Leu
ENST00000369816.4:c.496T>C ENSP00000358831.4:p.Phe166Leu
NM_022726.3:c.496T>C NP_073563.1:p.Phe166Leu
NM_022726.4:c.496T>C MANE Select NP_073563.1:p.Phe166Leu