Canonical Allele Identifier: CA304980130
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs563767547
gnomAD v2: 19-8469825-G-A
gnomAD v3: 19-8404941-G-A
gnomAD v4: 19-8404941-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404941G>A , CM000681.2:g.8404941G>A GRCh38
NC_000019.9:g.8469825G>A , CM000681.1:g.8469825G>A GRCh37
NC_000019.8:g.8375825G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000351593.9:c.-88+40065C>T ENSP00000264073.6:n.-88+40065C>T