Canonical Allele Identifier: CA993264585

Gene: ELAVL1

Linked Data

• dbSNP Id: rs1971467388
• gnomAD v3: 19-8404720-C-G
• gnomAD v4: 19-8404720-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8404720C>G , CM000681.2:g.8404720C>G	GRCh38
NC_000019.9:g.8469604C>G , CM000681.1:g.8469604C>G	GRCh37
NC_000019.8:g.8375604C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351593.9:c.-88+40286G>C	ENSP00000264073.6:n.-88+40286G>C