Canonical Allele Identifier: CA4740557
Gene: PRKDC HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.47862447T>C
GRCh37 chr8:g.48775008T>C
Revel Score:
ENST00000314191 (MANE Select) 0.157
ENST00000338368 0.157
gnomAD v2:
8:48775008 T / C
gnomAD v3:
8:47862447 T / C
gnomAD v4:
chr8-47862447-T-C
Joint Max Group AF 0.00008996 (AMR)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00012058 (AMR)
ClinVar RCV:
RCV000652362
ClinVar Variation:
541999
dbSNP:
56083215
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.47862447T>C , CM000670.2:g.47862447T>C GRCh38
NC_000008.10:g.48775008T>C , CM000670.1:g.48775008T>C GRCh37
NC_000008.9:g.48937561T>C NCBI36
NG_023435.1:g.102737A>G , LRG_162:g.102737A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314191.7:c.5845A>G MANE Select ENSP00000313420.3:p.Ile1949Val
ENST00000314191.6:c.5845A>G ENSP00000313420.3:p.Ile1949Val
ENST00000338368.7:c.5845A>G ENSP00000345182.4:p.Ile1949Val
ENST00000546304.1:n.511A>G
NM_001081640.1:c.5845A>G NP_001075109.1:p.Ile1949Val
NM_006904.6:c.5845A>G , LRG_162t1:c.5845A>G NP_008835.5:p.Ile1949Val
XM_011517567.1:c.5845A>G XP_011515869.1:p.Ile1949Val
XM_011517568.1:c.5845A>G XP_011515870.1:p.Ile1949Val
NM_001081640.2:c.5845A>G NP_001075109.1:p.Ile1949Val
NM_006904.7:c.5845A>G MANE Select NP_008835.5:p.Ile1949Val
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