Canonical Allele Identifier: CA4741573

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 377114
• ClinVar RCV Id: RCV000426828 ; RCV001082081
• dbSNP Id: rs8178040
• ExAC: 8:48842425 T / C
• gnomAD v2: 8-48842425-T-C
• gnomAD v3: 8-47929865-T-C
• gnomAD v4: 8-47929865-T-C
• MyVariant Identifiers: chr8:g.48842425T>C (hg19) ; chr8:g.47929865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47929865T>C , CM000670.2:g.47929865T>C	GRCh38
NC_000008.10:g.48842425T>C , CM000670.1:g.48842425T>C	GRCh37
NC_000008.9:g.49004978T>C	NCBI36
NG_023435.1:g.35319A>G , LRG_162:g.35319A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000314191.7:c.2040A>G MANE Select	ENSP00000313420.3:p.Ile680Met
ENST00000314191.6:c.2040A>G	ENSP00000313420.3:p.Ile680Met
ENST00000338368.7:c.2040A>G	ENSP00000345182.4:p.Ile680Met
NM_001081640.1:c.2040A>G	NP_001075109.1:p.Ile680Met
NM_006904.6:c.2040A>G , LRG_162t1:c.2040A>G	NP_008835.5:p.Ile680Met
XM_011517567.1:c.2040A>G	XP_011515869.1:p.Ile680Met
XM_011517568.1:c.2040A>G	XP_011515870.1:p.Ile680Met
NM_001081640.2:c.2040A>G	NP_001075109.1:p.Ile680Met
NM_006904.7:c.2040A>G MANE Select	NP_008835.5:p.Ile680Met