Canonical Allele Identifier: CA631362346
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs1486274560
gnomAD v2: 19-8469702-G-T
gnomAD v3: 19-8404818-G-T
gnomAD v4: 19-8404818-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404818G>T , CM000681.2:g.8404818G>T GRCh38
NC_000019.9:g.8469702G>T , CM000681.1:g.8469702G>T GRCh37
NC_000019.8:g.8375702G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+40188C>A ENSP00000264073.6:n.-88+40188C>A