Canonical Allele Identifier: CA3901510
Gene: ELOVL4 HGNC NCBI

Linked Data

dbSNP Id: rs746276823
ExAC: 6:80631300 T / C
gnomAD v2: 6-80631300-T-C
gnomAD v3: 6-79921583-T-C
gnomAD v4: 6-79921583-T-C
MyVariant Identifiers: chr6:g.80631300T>C (hg19) chr6:g.79921583T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.79921583T>C , CM000668.2:g.79921583T>C GRCh38
NC_000006.11:g.80631300T>C , CM000668.1:g.80631300T>C GRCh37
NC_000006.10:g.80688019T>C NCBI36
NG_009108.1:g.31016A>G
NG_009108.2:g.31016A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369816.5:c.541+42A>G MANE Select ENSP00000358831.4:n.541+42A>G
ENST00000369816.4:c.541+42A>G ENSP00000358831.4:n.541+42A>G
NM_022726.3:c.541+42A>G NP_073563.1:n.541+42A>G
NM_022726.4:c.541+42A>G MANE Select NP_073563.1:n.541+42A>G
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