Canonical Allele Identifier: CA304994945
Gene: ELAVL1 HGNC NCBI
RAB11B-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs536369616
gnomAD v2: 19-8442043-C-T
gnomAD v3: 19-8377159-C-T
gnomAD v4: 19-8377159-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8377159C>T , CM000681.2:g.8377159C>T GRCh38
NC_000019.9:g.8442043C>T , CM000681.1:g.8442043C>T GRCh37
NC_000019.8:g.8348043C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+67847G>A (ELAVL1) ENSP00000264073.6:n.-88+67847G>A
NR_038237.1:n.684-92G>A (RAB11B-AS1)