Canonical Allele Identifier: CA9154544
Gene: CD320 HGNC NCBI
ELAVL1 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.8302274C>T
GRCh37 chr19:g.8367158C>T
Revel Score:
ENST00000323539 0.047
gnomAD v2:
19:8367158 C / T
gnomAD v3:
19:8302274 C / T
gnomAD v4:
chr19-8302274-C-T
Joint Max Group AF 0.29720393 (AFR)
Genomes Max Group AF 0.29849465 (AFR)
Exomes Max Group AF 0.2891102 (AFR)
ClinVar RCV:
RCV001640070
ClinVar Variation:
1239139
dbSNP:
9426
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8302274C>T , CM000681.2:g.8302274C>T GRCh38
NC_000019.9:g.8367158C>T , CM000681.1:g.8367158C>T GRCh37
NC_000019.8:g.8273158C>T NCBI36
NG_028124.1:g.11083G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301458.10:c.*189G>A (CD320) MANE Select ENSP00000301458.4:n.*189G>A
ENST00000301458.9:c.*189G>A (CD320) ENSP00000301458.4:n.*189G>A
ENST00000351593.9:c.-87-40270G>A (ELAVL1) ENSP00000264073.6:n.-87-40270G>A
ENST00000537716.6:c.*189G>A (CD320) ENSP00000437697.1:n.*189G>A
ENST00000596002.5:c.*1326G>A (CD320) ENSP00000471773.1:n.*1326G>A
NM_001165895.1:c.*189G>A (CD320) NP_001159367.1:n.*189G>A
NM_016579.3:c.*189G>A (CD320) NP_057663.1:n.*189G>A
NM_016579.4:c.*189G>A (CD320) MANE Select NP_057663.1:n.*189G>A
NM_001165895.2:c.*189G>A (CD320) NP_001159367.1:n.*189G>A
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