Canonical Allele Identifier: CA304995001
Gene: ELAVL1 HGNC NCBI
RAB11B-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs7256172
gnomAD v2: 19-8442170-C-T
gnomAD v3: 19-8377286-C-T
gnomAD v4: 19-8377286-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8377286C>T , CM000681.2:g.8377286C>T GRCh38
NC_000019.9:g.8442170C>T , CM000681.1:g.8442170C>T GRCh37
NC_000019.8:g.8348170C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-88+67720G>A (ELAVL1) ENSP00000264073.6:n.-88+67720G>A
NR_038237.1:n.684-219G>A (RAB11B-AS1)