Canonical Allele Identifier: CA304979790
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs749427044
gnomAD v2: 19-8469351-C-T
gnomAD v3: 19-8404467-C-T
gnomAD v4: 19-8404467-C-T
MyVariant Identifiers: chr19:g.8469351C>T (hg19) chr19:g.8404467C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404467C>T , CM000681.2:g.8404467C>T GRCh38
NC_000019.9:g.8469351C>T , CM000681.1:g.8469351C>T GRCh37
NC_000019.8:g.8375351C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+40539G>A ENSP00000264073.6:n.-88+40539G>A
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