Canonical Allele Identifier: CA364656539
Gene: ELOVL4 HGNC NCBI

Linked Data

gnomAD v4: 6-79921673-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79921673T>C , CM000668.2:g.79921673T>C GRCh38
NC_000006.11:g.80631390T>C , CM000668.1:g.80631390T>C GRCh37
NC_000006.10:g.80688109T>C NCBI36
NG_009108.1:g.30926A>G
NG_009108.2:g.30926A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369816.5:c.493A>G MANE Select ENSP00000358831.4:p.Met165Val
ENST00000369816.4:c.493A>G ENSP00000358831.4:p.Met165Val
NM_022726.3:c.493A>G NP_073563.1:p.Met165Val
NM_022726.4:c.493A>G MANE Select NP_073563.1:p.Met165Val