Canonical Allele Identifier: CA179999

Gene: ELOVL4

Linked Data

• ClinVar Variation Id: 137206
• ClinVar RCV Id: RCV000153195 ; RCV001514429 ; RCV000305578 ; RCV001657789 ; RCV001657790
• dbSNP Id: rs3812153
• ExAC: 6:80626375 T / C
• gnomAD v2: 6-80626375-T-C
• gnomAD v3: 6-79916658-T-C
• gnomAD v4: 6-79916658-T-C
• MyVariant Identifiers: chr6:g.80626375T>C (hg19) ; chr6:g.79916658T>C (hg38)
• PubMed: PMID:20388345

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79916658T>C , CM000668.2:g.79916658T>C	GRCh38
NC_000006.11:g.80626375T>C , CM000668.1:g.80626375T>C	GRCh37
NC_000006.10:g.80683094T>C	NCBI36
NG_009108.1:g.35941A>G
NG_009108.2:g.35941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369816.5:c.895A>G MANE Select	ENSP00000358831.4:p.Met299Val
ENST00000369816.4:c.895A>G	ENSP00000358831.4:p.Met299Val
NM_022726.3:c.895A>G	NP_073563.1:p.Met299Val
NM_022726.4:c.895A>G MANE Select	NP_073563.1:p.Met299Val