Canonical Allele Identifier: CA299870

Gene: RAD51C

Linked Data

• ClinVar Variation Id: 182830
• ClinVar RCV Id: RCV000160918 ; RCV000198840 ; RCV000563190 ; RCV001195011 ; RCV003462104
• dbSNP Id: rs730881927
• gnomAD v3: 17-58694939-A-C
• gnomAD v4: 17-58694939-A-C
• MyVariant Identifiers: chr17:g.56772300A>C (hg19) ; chr17:g.58694939A>C (hg38)
• PubMed: PMID:21990120

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58694939A>C , CM000679.2:g.58694939A>C	GRCh38
NC_000017.10:g.56772300A>C , CM000679.1:g.56772300A>C	GRCh37
NC_000017.9:g.54127299A>C	NCBI36
NG_023199.1:g.7338A>C , LRG_314:g.7338A>C
NG_047169.1:g.2141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461271.6:c.-198A>C	ENSP00000464056.2:n.-198A>C
ENST00000697675.1:n.1248A>C
ENST00000697676.1:n.214A>C
ENST00000697677.1:n.1235A>C
ENST00000697678.1:n.56A>C
ENST00000697679.1:n.1228A>C
ENST00000697680.1:c.*1018A>C	ENSP00000513392.1:n.*1018A>C
ENST00000697681.1:c.*1018A>C	ENSP00000513393.1:n.*1018A>C
ENST00000697683.1:c.*1018A>C	ENSP00000513395.1:n.*1018A>C
ENST00000697684.1:n.214A>C
ENST00000697685.1:c.*1018A>C	ENSP00000513396.1:n.*1018A>C
ENST00000697686.1:c.-198A>C	ENSP00000513397.1:n.-198A>C
ENST00000697687.1:n.200A>C
ENST00000697688.1:n.200A>C
ENST00000697689.1:c.*857A>C	ENSP00000513398.1:n.*857A>C
ENST00000697690.1:c.154A>C	ENSP00000513399.1:p.Ile52Leu
ENST00000697691.1:c.*126A>C	ENSP00000513400.1:n.*126A>C
ENST00000697692.1:c.*166A>C	ENSP00000513401.1:n.*166A>C
ENST00000697693.1:n.929A>C
ENST00000697694.1:c.-198A>C	ENSP00000513402.1:n.-198A>C
ENST00000697695.1:n.761A>C
ENST00000337432.9:c.154A>C MANE Select	ENSP00000336701.4:p.Ile52Leu
ENST00000337432.8:c.154A>C	ENSP00000336701.4:p.Ile52Leu
ENST00000421782.3:c.154A>C	ENSP00000391450.2:p.Ile52Leu
ENST00000461271.5:c.-198A>C	ENSP00000464056.1:n.-198A>C
ENST00000475762.5:c.*857A>C	ENSP00000432421.1:n.*857A>C
ENST00000482007.5:c.154A>C	ENSP00000433332.1:p.Ile52Leu
ENST00000486827.1:c.*1018A>C	ENSP00000436761.1:n.*1018A>C
ENST00000487525.5:c.154A>C	ENSP00000431637.1:p.Ile52Leu
ENST00000487921.5:n.66A>C
ENST00000583539.5:c.154A>C	ENSP00000463121.1:p.Ile52Leu
ENST00000584617.5:c.127-1754A>C
NM_002876.3:c.154A>C	NP_002867.1:p.Ile52Leu
NM_058216.2:c.154A>C	NP_478123.1:p.Ile52Leu
NR_103872.1:n.225A>C
NR_103873.1:n.122A>C
XM_006722001.2:c.154A>C	XP_006722064.1:p.Ile52Leu
XM_006722002.2:c.154A>C	XP_006722065.1:p.Ile52Leu
XM_006722004.2:c.-198A>C	XP_006722067.1:n.-198A>C
XM_006722005.2:c.-198A>C	XP_006722068.1:n.-198A>C
XM_011525092.1:c.-198A>C	XP_011523394.1:n.-198A>C
XM_011525093.1:c.-198A>C	XP_011523395.1:n.-198A>C
XM_011525094.1:c.-198A>C	XP_011523396.1:n.-198A>C
XR_934513.1:n.227A>C
XR_934514.1:n.227A>C
XM_006722001.4:c.154A>C	XP_006722064.1:p.Ile52Leu
XM_006722002.4:c.154A>C	XP_006722065.1:p.Ile52Leu
XM_006722004.3:c.-198A>C	XP_006722067.1:n.-198A>C
XM_006722005.3:c.-198A>C	XP_006722068.1:n.-198A>C
XM_011525092.2:c.-198A>C	XP_011523394.1:n.-198A>C
XM_011525093.2:c.-198A>C	XP_011523395.1:n.-198A>C
XM_011525094.2:c.-198A>C	XP_011523396.1:n.-198A>C
XM_017024914.1:c.-198A>C	XP_016880403.1:n.-198A>C
XM_017024915.1:c.-198A>C	XP_016880404.1:n.-198A>C
XM_017024916.1:c.-198A>C	XP_016880405.1:n.-198A>C
XM_017024917.1:c.-198A>C	XP_016880406.1:n.-198A>C
XM_017024918.2:c.-198A>C	XP_016880407.1:n.-198A>C
XM_017024919.1:c.-198A>C	XP_016880408.1:n.-198A>C
XR_934513.3:n.658A>C
XR_934514.3:n.658A>C
NM_058216.3:c.154A>C MANE Select	NP_478123.1:p.Ile52Leu
NR_103872.2:n.196A>C
NM_002876.4:c.154A>C	NP_002867.1:p.Ile52Leu