Canonical Allele Identifier: CA304979823

Gene: ELAVL1

Linked Data

• dbSNP Id: rs947950748
• gnomAD v2: 19-8469407-G-T
• gnomAD v3: 19-8404523-G-T
• gnomAD v4: 19-8404523-G-T
• MyVariant Identifiers: chr19:g.8469407G>T (hg19) ; chr19:g.8404523G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8404523G>T , CM000681.2:g.8404523G>T	GRCh38
NC_000019.9:g.8469407G>T , CM000681.1:g.8469407G>T	GRCh37
NC_000019.8:g.8375407G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351593.9:c.-88+40483C>A	ENSP00000264073.6:n.-88+40483C>A