Canonical Allele Identifier: CA364656523
Gene: ELOVL4 HGNC NCBI

Linked Data

gnomAD v4: 6-79921667-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79921667T>G , CM000668.2:g.79921667T>G GRCh38
NC_000006.11:g.80631384T>G , CM000668.1:g.80631384T>G GRCh37
NC_000006.10:g.80688103T>G NCBI36
NG_009108.1:g.30932A>C
NG_009108.2:g.30932A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369816.5:c.499A>C MANE Select ENSP00000358831.4:p.Thr167Pro
ENST00000369816.4:c.499A>C ENSP00000358831.4:p.Thr167Pro
NM_022726.3:c.499A>C NP_073563.1:p.Thr167Pro
NM_022726.4:c.499A>C MANE Select NP_073563.1:p.Thr167Pro