Canonical Allele Identifier: CA2985104
Gene: HNRNPDL HGNC NCBI
COSMIC:
COSM5324815 (not active)
MyVariant.info:
GRCh38 chr4:g.82429443G>A
GRCh37 chr4:g.83350596G>A
Revel Score:
ENST00000295470 (MANE Select) 0.066
ENST00000502762 0.066
gnomAD v2:
4:83350596 G / A
gnomAD v3:
4:82429443 G / A
gnomAD v4:
chr4-82429443-G-A
Joint Max Group AF 0.00543151 (MID)
Genomes Max Group AF 0.00070476 (NFE)
Exomes Max Group AF 0.00570416 (MID)
ClinVar RCV:
RCV000639992
RCV004025591
ClinVar Variation:
533022
dbSNP:
201774571
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.82429443G>A , CM000666.2:g.82429443G>A GRCh38
NC_000004.11:g.83350596G>A , CM000666.1:g.83350596G>A GRCh37
NC_000004.10:g.83569620G>A NCBI36
NG_029681.1:g.5783C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295470.10:c.248C>T MANE Select ENSP00000295470.5:p.Pro83Leu
ENST00000295470.9:c.248C>T ENSP00000295470.5:p.Pro83Leu
ENST00000349655.8:c.-110C>T ENSP00000338552.5:n.-110C>T
ENST00000502762.4:c.248C>T ENSP00000422040.1:p.Pro83Leu
ENST00000614627.4:c.248C>T ENSP00000478723.1:p.Pro83Leu
ENST00000621267.4:c.248C>T ENSP00000483254.1:p.Pro83Leu
ENST00000630114.2:c.-79-31C>T ENSP00000486452.1:n.-79-31C>T
ENST00000630827.1:c.-79-31C>T ENSP00000485954.1:n.-79-31C>T
NM_001207000.1:c.248C>T NP_001193929.1:p.Pro83Leu
NM_031372.3:c.248C>T NP_112740.1:p.Pro83Leu
NR_003249.2:n.783C>T
NM_031372.4:c.248C>T MANE Select NP_112740.1:p.Pro83Leu
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