Canonical Allele Identifier: CA631362349

Gene: ELAVL1

Linked Data

• dbSNP Id: rs1435251445
• gnomAD v2: 19-8469747-C-G
• gnomAD v3: 19-8404863-C-G
• gnomAD v4: 19-8404863-C-G
• MyVariant Identifiers: chr19:g.8469747C>G (hg19) ; chr19:g.8404863C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8404863C>G , CM000681.2:g.8404863C>G	GRCh38
NC_000019.9:g.8469747C>G , CM000681.1:g.8469747C>G	GRCh37
NC_000019.8:g.8375747C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000351593.9:c.-88+40143G>C	ENSP00000264073.6:n.-88+40143G>C