Canonical Allele Identifier: CA15955243
Gene: ELAVL1 HGNC NCBI
CERS4 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.8206837G>A
GRCh37 chr19:g.8271721G>A
gnomAD v2:
19:8271721 G / A
gnomAD v3:
19:8206837 G / A
gnomAD v4:
chr19-8206837-G-A
Joint Max Group AF 0.48796475 (NFE)
Genomes Max Group AF 0.48988171 (NFE)
Exomes Max Group AF 0.40973737 (NFE)
dbSNP:
7258249
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8206837G>A , CM000681.2:g.8206837G>A GRCh38
NC_000019.9:g.8271721G>A , CM000681.1:g.8271721G>A GRCh37
NC_000019.8:g.8177721G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000351593.9:c.-52+55132C>T (ELAVL1) ENSP00000264073.6:n.-52+55132C>T
ENST00000561008.5:c.-191+38G>A (CERS4) ENSP00000453796.1:n.-191+38G>A
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