Canonical Allele Identifier: CA304980034
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs772347845
gnomAD v2: 19-8469715-T-G
gnomAD v3: 19-8404831-T-G
gnomAD v4: 19-8404831-T-G
MyVariant Identifiers: chr19:g.8469715T>G (hg19) chr19:g.8404831T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404831T>G , CM000681.2:g.8404831T>G GRCh38
NC_000019.9:g.8469715T>G , CM000681.1:g.8469715T>G GRCh37
NC_000019.8:g.8375715T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000351593.9:c.-88+40175A>C ENSP00000264073.6:n.-88+40175A>C
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