Canonical Allele Identifier: CA187731

Gene: RAD51C

Linked Data

• ClinVar Variation Id: 184083
• ClinVar RCV Id: RCV000163204 ; RCV001249246 ; RCV001721040 ; RCV000430391 ; RCV000475036
• dbSNP Id: rs747727600
• ExAC: 17:56809846 T / C
• gnomAD v2: 17-56809846-T-C
• gnomAD v3: 17-58732485-T-C
• gnomAD v4: 17-58732485-T-C
• MyVariant Identifiers: chr17:g.56809846T>C (hg19) ; chr17:g.58732485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58732485T>C , CM000679.2:g.58732485T>C	GRCh38
NC_000017.10:g.56809846T>C , CM000679.1:g.56809846T>C	GRCh37
NC_000017.9:g.54164845T>C	NCBI36
NG_023199.1:g.44884T>C , LRG_314:g.44884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461271.6:c.616T>C	ENSP00000464056.2:p.Leu206=
ENST00000697680.1:c.*1931T>C	ENSP00000513392.1:n.*1931T>C
ENST00000697681.1:c.*2128T>C	ENSP00000513393.1:n.*2128T>C
ENST00000697683.1:c.*1903T>C	ENSP00000513395.1:n.*1903T>C
ENST00000697685.1:c.*1664T>C	ENSP00000513396.1:n.*1664T>C
ENST00000697686.1:c.738T>C	ENSP00000513397.1:p.Gly246=
ENST00000697689.1:c.*1441-1633T>C	ENSP00000513398.1:n.*1441-1633T>C
ENST00000697690.1:c.905-1633T>C	ENSP00000513399.1:n.905-1633T>C
ENST00000697691.1:c.*939T>C	ENSP00000513400.1:n.*939T>C
ENST00000697692.1:c.*979T>C	ENSP00000513401.1:n.*979T>C
ENST00000697694.1:c.616T>C	ENSP00000513402.1:p.Leu206=
ENST00000697695.1:n.1574T>C
ENST00000337432.9:c.967T>C MANE Select	ENSP00000336701.4:p.Leu323=
ENST00000337432.8:c.967T>C	ENSP00000336701.4:p.Leu323=
ENST00000413590.5:c.608T>C
ENST00000461706.1:n.154T>C
ENST00000475762.5:c.*1603T>C	ENSP00000432421.1:n.*1603T>C
ENST00000482007.5:c.*395T>C	ENSP00000433332.1:n.*395T>C
ENST00000487525.5:c.*543T>C	ENSP00000431637.1:n.*543T>C
ENST00000578151.1:n.240-1633T>C
ENST00000581221.5:n.482T>C
ENST00000583539.5:c.967T>C	ENSP00000463121.1:p.Leu323=
ENST00000584617.5:c.689T>C
ENST00000584804.1:c.201T>C	ENSP00000463658.1:p.Gly67=
NM_058216.2:c.967T>C	NP_478123.1:p.Leu323=
NR_103872.1:n.871T>C
XM_006722001.2:c.970T>C	XP_006722064.1:p.Leu324=
XM_006722002.2:c.906T>C	XP_006722065.1:p.Gly302=
XM_006722004.2:c.619T>C	XP_006722067.1:p.Leu207=
XM_006722005.2:c.619T>C	XP_006722068.1:p.Leu207=
XM_011525092.1:c.619T>C	XP_011523394.1:p.Leu207=
XM_011525093.1:c.619T>C	XP_011523395.1:p.Leu207=
XM_011525094.1:c.619T>C	XP_011523396.1:p.Leu207=
XR_934513.1:n.1185T>C
XR_934514.1:n.1188T>C
XR_934886.1:n.149+5586A>G
XM_006722001.4:c.970T>C	XP_006722064.1:p.Leu324=
XM_006722002.4:c.906T>C	XP_006722065.1:p.Gly302=
XM_006722004.3:c.619T>C	XP_006722067.1:p.Leu207=
XM_006722005.3:c.619T>C	XP_006722068.1:p.Leu207=
XM_011525092.2:c.619T>C	XP_011523394.1:p.Leu207=
XM_011525093.2:c.619T>C	XP_011523395.1:p.Leu207=
XM_011525094.2:c.619T>C	XP_011523396.1:p.Leu207=
XM_017024914.1:c.616T>C	XP_016880403.1:p.Leu206=
XM_017024915.1:c.616T>C	XP_016880404.1:p.Leu206=
XM_017024916.1:c.616T>C	XP_016880405.1:p.Leu206=
XM_017024917.1:c.616T>C	XP_016880406.1:p.Leu206=
XM_017024918.2:c.616T>C	XP_016880407.1:p.Leu206=
XM_017024919.1:c.555T>C	XP_016880408.1:p.Gly185=
XR_934513.3:n.1616T>C
XR_934514.3:n.1619T>C
XR_934886.2:n.149+5586A>G
NM_058216.3:c.967T>C MANE Select	NP_478123.1:p.Leu323=
NR_103872.2:n.842T>C