Canonical Allele Identifier: CA993264625
Gene: ELAVL1 HGNC NCBI

Linked Data

dbSNP Id: rs1971468944
gnomAD v3: 19-8404936-C-G
gnomAD v4: 19-8404936-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8404936C>G , CM000681.2:g.8404936C>G GRCh38
NC_000019.9:g.8469820C>G , CM000681.1:g.8469820C>G GRCh37
NC_000019.8:g.8375820C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000351593.9:c.-88+40070G>C ENSP00000264073.6:n.-88+40070G>C