Canonical Allele Identifier: CA364657219
Gene: ELOVL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 433192
dbSNP Id: rs1554162524
gnomAD v4: 6-79925034-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79925034T>C , CM000668.2:g.79925034T>C GRCh38
NC_000006.11:g.80634751T>C , CM000668.1:g.80634751T>C GRCh37
NC_000006.10:g.80691470T>C NCBI36
NG_009108.1:g.27565A>G
NG_009108.2:g.27565A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369816.5:c.289-2A>G MANE Select ENSP00000358831.4:n.289-2A>G
ENST00000369816.4:c.289-2A>G ENSP00000358831.4:n.289-2A>G
NM_022726.3:c.289-2A>G NP_073563.1:n.289-2A>G
NM_022726.4:c.289-2A>G MANE Select NP_073563.1:n.289-2A>G