Canonical Allele Identifier: CA4739548

Gene: PRKDC

Linked Data

• ClinVar Variation Id: 542003
• ClinVar RCV Id: RCV000652366
• dbSNP Id: rs140578467
• ExAC: 8:48730007 T / G
• gnomAD v2: 8-48730007-T-G
• gnomAD v3: 8-47817446-T-G
• gnomAD v4: 8-47817446-T-G
• MyVariant Identifiers: chr8:g.48730007T>G (hg19) ; chr8:g.47817446T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.47817446T>G , CM000670.2:g.47817446T>G	GRCh38
NC_000008.10:g.48730007T>G , CM000670.1:g.48730007T>G	GRCh37
NC_000008.9:g.48892560T>G	NCBI36
NG_023435.1:g.147738A>C , LRG_162:g.147738A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697603.1:c.2234+4A>C	ENSP00000513358.1:n.2234+4A>C
ENST00000697607.1:n.1089+4A>C
ENST00000314191.7:c.9557+4A>C MANE Select	ENSP00000313420.3:n.9557+4A>C
ENST00000314191.6:c.9557+4A>C	ENSP00000313420.3:n.9557+4A>C
ENST00000338368.7:c.9557+4A>C	ENSP00000345182.4:n.9557+4A>C
NM_001081640.1:c.9557+4A>C	NP_001075109.1:n.9557+4A>C
NM_006904.6:c.9557+4A>C , LRG_162t1:c.9557+4A>C	NP_008835.5:n.9557+4A>C
XM_011517567.1:c.9560+4A>C	XP_011515869.1:n.9560+4A>C
XM_011517568.1:c.9560+4A>C	XP_011515870.1:n.9560+4A>C
NM_001081640.2:c.9557+4A>C	NP_001075109.1:n.9557+4A>C
NM_006904.7:c.9557+4A>C MANE Select	NP_008835.5:n.9557+4A>C