Canonical Allele Identifier: CA304980030
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs935278208
gnomAD v2: 19-8469710-G-C
gnomAD v3: 19-8404826-G-C
gnomAD v4: 19-8404826-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404826G>C , CM000681.2:g.8404826G>C GRCh38
NC_000019.9:g.8469710G>C , CM000681.1:g.8469710G>C GRCh37
NC_000019.8:g.8375710G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+40180C>G ENSP00000264073.6:n.-88+40180C>G