Canonical Allele Identifier: CA304979759
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs1013850019
gnomAD v2: 19-8469330-G-A
gnomAD v3: 19-8404446-G-A
gnomAD v4: 19-8404446-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404446G>A , CM000681.2:g.8404446G>A GRCh38
NC_000019.9:g.8469330G>A , CM000681.1:g.8469330G>A GRCh37
NC_000019.8:g.8375330G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+40560C>T ENSP00000264073.6:n.-88+40560C>T