Canonical Allele Identifier: CA364656533
Gene: ELOVL4 HGNC NCBI

Linked Data

dbSNP Id: rs1774259167
gnomAD v3: 6-79921671-C-T
gnomAD v4: 6-79921671-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79921671C>T , CM000668.2:g.79921671C>T GRCh38
NC_000006.11:g.80631388C>T , CM000668.1:g.80631388C>T GRCh37
NC_000006.10:g.80688107C>T NCBI36
NG_009108.1:g.30928G>A
NG_009108.2:g.30928G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369816.5:c.495G>A MANE Select ENSP00000358831.4:p.Met165Ile
ENST00000369816.4:c.495G>A ENSP00000358831.4:p.Met165Ile
NM_022726.3:c.495G>A NP_073563.1:p.Met165Ile
NM_022726.4:c.495G>A MANE Select NP_073563.1:p.Met165Ile