Canonical Allele Identifier: CA208307

Gene: RAD51C

Linked Data

• ClinVar Variation Id: 128211
• ClinVar RCV Id: RCV000116180 ; RCV000515761 ; RCV000487827 ; RCV000662625 ; RCV000709513 ; RCV000194252 ; RCV000989962 ; RCV001270343 ; RCV001798366 ; RCV002272129 ; RCV004528815
• dbSNP Id: rs147241704
• ExAC: 17:56787304 G / A
• gnomAD v2: 17-56787304-G-A
• gnomAD v3: 17-58709943-G-A
• gnomAD v4: 17-58709943-G-A
• MyVariant Identifiers: chr17:g.56787304G>A (hg19) ; chr17:g.58709943G>A (hg38)
• PubMed: PMID:20400964 ; PMID:20952512 ; PMID:21537932 ; PMID:21616938 ; PMID:21750962 ; PMID:21990120 ; PMID:22167183 ; PMID:22370629 ; PMID:22538716 ; PMID:22725699 ; PMID:23117857 ; PMID:24315737 ; PMID:24504028 ; PMID:24800917 ; PMID:24993905 ; PMID:25292178 ; PMID:25318351 ; PMID:25470109 ; PMID:25980754 ; PMID:26261251 ; PMID:26406419 ; PMID:26483394 ; PMID:26740214 ; PMID:26976419 ; PMID:27153395 ; PMID:27443514 ; PMID:27621404 ; PMID:27622768 ; PMID:27878467 ; PMID:27978560

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58709943G>A , CM000679.2:g.58709943G>A	GRCh38
NC_000017.10:g.56787304G>A , CM000679.1:g.56787304G>A	GRCh37
NC_000017.9:g.54142303G>A	NCBI36
NG_023199.1:g.22342G>A , LRG_314:g.22342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461271.6:c.439G>A	ENSP00000464056.2:p.Gly147Ser
ENST00000697678.1:n.692G>A
ENST00000697679.1:n.1864G>A
ENST00000697680.1:c.*1654G>A	ENSP00000513392.1:n.*1654G>A
ENST00000697681.1:c.*1951G>A	ENSP00000513393.1:n.*1951G>A
ENST00000697683.1:c.*1654G>A	ENSP00000513395.1:n.*1654G>A
ENST00000697684.1:n.850G>A
ENST00000697685.1:c.*1487G>A	ENSP00000513396.1:n.*1487G>A
ENST00000697686.1:c.439G>A	ENSP00000513397.1:p.Gly147Ser
ENST00000697687.1:n.669G>A
ENST00000697688.1:n.836G>A
ENST00000697689.1:c.*1326G>A	ENSP00000513398.1:n.*1326G>A
ENST00000697690.1:c.790G>A	ENSP00000513399.1:p.Gly264Ser
ENST00000697691.1:c.*762G>A	ENSP00000513400.1:n.*762G>A
ENST00000697692.1:c.*802G>A	ENSP00000513401.1:n.*802G>A
ENST00000697694.1:c.439G>A	ENSP00000513402.1:p.Gly147Ser
ENST00000697695.1:n.1397G>A
ENST00000337432.9:c.790G>A MANE Select	ENSP00000336701.4:p.Gly264Ser
ENST00000337432.8:c.790G>A	ENSP00000336701.4:p.Gly264Ser
ENST00000413590.5:c.428G>A
ENST00000475762.5:c.*1493G>A	ENSP00000432421.1:n.*1493G>A
ENST00000482007.5:c.*218G>A	ENSP00000433332.1:n.*218G>A
ENST00000487525.5:c.*363G>A	ENSP00000431637.1:n.*363G>A
ENST00000578151.1:n.125G>A
ENST00000581221.5:n.305G>A
ENST00000583539.5:c.790G>A	ENSP00000463121.1:p.Gly264Ser
ENST00000584617.5:c.512G>A
ENST00000584804.1:c.85G>A	ENSP00000463658.1:p.Gly29Ser
NM_058216.2:c.790G>A	NP_478123.1:p.Gly264Ser
NR_103872.1:n.694G>A
XM_006722001.2:c.790G>A	XP_006722064.1:p.Gly264Ser
XM_006722002.2:c.790G>A	XP_006722065.1:p.Gly264Ser
XM_006722004.2:c.439G>A	XP_006722067.1:p.Gly147Ser
XM_006722005.2:c.439G>A	XP_006722068.1:p.Gly147Ser
XM_011525092.1:c.439G>A	XP_011523394.1:p.Gly147Ser
XM_011525093.1:c.439G>A	XP_011523395.1:p.Gly147Ser
XM_011525094.1:c.439G>A	XP_011523396.1:p.Gly147Ser
XR_934513.1:n.1008G>A
XR_934514.1:n.1008G>A
XM_006722001.4:c.790G>A	XP_006722064.1:p.Gly264Ser
XM_006722002.4:c.790G>A	XP_006722065.1:p.Gly264Ser
XM_006722004.3:c.439G>A	XP_006722067.1:p.Gly147Ser
XM_006722005.3:c.439G>A	XP_006722068.1:p.Gly147Ser
XM_011525092.2:c.439G>A	XP_011523394.1:p.Gly147Ser
XM_011525093.2:c.439G>A	XP_011523395.1:p.Gly147Ser
XM_011525094.2:c.439G>A	XP_011523396.1:p.Gly147Ser
XM_017024914.1:c.439G>A	XP_016880403.1:p.Gly147Ser
XM_017024915.1:c.439G>A	XP_016880404.1:p.Gly147Ser
XM_017024916.1:c.439G>A	XP_016880405.1:p.Gly147Ser
XM_017024917.1:c.439G>A	XP_016880406.1:p.Gly147Ser
XM_017024918.2:c.439G>A	XP_016880407.1:p.Gly147Ser
XM_017024919.1:c.439G>A	XP_016880408.1:p.Gly147Ser
XR_934513.3:n.1439G>A
XR_934514.3:n.1439G>A
NM_058216.3:c.790G>A MANE Select	NP_478123.1:p.Gly264Ser
NR_103872.2:n.665G>A