Canonical Allele Identifier: CA14682687
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs56278525
gnomAD v2: 19-8469727-A-C
gnomAD v3: 19-8404843-A-C
gnomAD v4: 19-8404843-A-C
MyVariant Identifiers: chr19:g.8469727A>C (hg19) chr19:g.8404843A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404843A>C , CM000681.2:g.8404843A>C GRCh38
NC_000019.9:g.8469727A>C , CM000681.1:g.8469727A>C GRCh37
NC_000019.8:g.8375727A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000351593.9:c.-88+40163T>G ENSP00000264073.6:n.-88+40163T>G
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