Canonical Allele Identifier: CA304980059
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs899589753
gnomAD v2: 19-8469750-C-T
gnomAD v3: 19-8404866-C-T
gnomAD v4: 19-8404866-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404866C>T , CM000681.2:g.8404866C>T GRCh38
NC_000019.9:g.8469750C>T , CM000681.1:g.8469750C>T GRCh37
NC_000019.8:g.8375750C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000351593.9:c.-88+40140G>A ENSP00000264073.6:n.-88+40140G>A