Canonical Allele Identifier: CA304979769
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs974714339
gnomAD v2: 19-8469345-C-A
gnomAD v3: 19-8404461-C-A
gnomAD v4: 19-8404461-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404461C>A , CM000681.2:g.8404461C>A GRCh38
NC_000019.9:g.8469345C>A , CM000681.1:g.8469345C>A GRCh37
NC_000019.8:g.8375345C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+40545G>T ENSP00000264073.6:n.-88+40545G>T