Canonical Allele Identifier: CA9154741
Gene: CD320 HGNC NCBI
ELAVL1 HGNC NCBI
ClinVar RCV:
RCV003855027
RCV004369508
ClinVar Variation:
2999916
dbSNP:
767324816
gnomAD v2:
19:8368814 C / T
gnomAD v3:
19:8303930 C / T
gnomAD v4:
chr19-8303930-C-T
Joint Max Group AF 0.00002083 (NFE)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.0000155 (NFE)
MyVariant.info:
GRCh38 chr19:g.8303930C>T
GRCh37 chr19:g.8368814C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8303930C>T , CM000681.2:g.8303930C>T GRCh38
NC_000019.9:g.8368814C>T , CM000681.1:g.8368814C>T GRCh37
NC_000019.8:g.8274814C>T NCBI36
NG_028124.1:g.9427G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301458.10:c.427G>A (CD320) MANE Select ENSP00000301458.4:p.Asp143Asn
ENST00000301458.9:c.427G>A (CD320) ENSP00000301458.4:p.Asp143Asn
ENST00000351593.9:c.-87-41926G>A (ELAVL1) ENSP00000264073.6:n.-87-41926G>A
ENST00000537716.6:c.301G>A (CD320) ENSP00000437697.1:p.Asp101Asn
ENST00000596002.5:c.*715G>A (CD320) ENSP00000471773.1:n.*715G>A
ENST00000599573.1:c.293G>A (CD320)
NM_001165895.1:c.301G>A (CD320) NP_001159367.1:p.Asp101Asn
NM_016579.3:c.427G>A (CD320) NP_057663.1:p.Asp143Asn
NM_016579.4:c.427G>A (CD320) MANE Select NP_057663.1:p.Asp143Asn
NM_001165895.2:c.301G>A (CD320) NP_001159367.1:p.Asp101Asn
Search 100 bp 5'
Search 100 bp 3'