Canonical Allele Identifier: CA631362348

Gene: ELAVL1

Linked Data

• dbSNP Id: rs1484489003
• gnomAD v2: 19-8469714-T-C
• gnomAD v3: 19-8404830-T-C
• gnomAD v4: 19-8404830-T-C
• MyVariant Identifiers: chr19:g.8469714T>C (hg19) ; chr19:g.8404830T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8404830T>C , CM000681.2:g.8404830T>C	GRCh38
NC_000019.9:g.8469714T>C , CM000681.1:g.8469714T>C	GRCh37
NC_000019.8:g.8375714T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351593.9:c.-88+40176A>G	ENSP00000264073.6:n.-88+40176A>G