Canonical Allele Identifier: CA400365176

Gene: RAD51C

Linked Data

• ClinVar Variation Id: 486270
• ClinVar RCV Id: RCV001036845 ; RCV000568386
• dbSNP Id: rs1555605103
• gnomAD v4: 17-58732536-C-T
• MyVariant Identifiers: chr17:g.56809897C>T (hg19) ; chr17:g.58732536C>T (hg38)
• PubMed: PMID:21447597 ; PMID:23500037

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58732536C>T , CM000679.2:g.58732536C>T	GRCh38
NC_000017.10:g.56809897C>T , CM000679.1:g.56809897C>T	GRCh37
NC_000017.9:g.54164896C>T	NCBI36
NG_023199.1:g.44935C>T , LRG_314:g.44935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461271.6:c.667C>T	ENSP00000464056.2:p.Gln223Ter
ENST00000697680.1:c.*1982C>T	ENSP00000513392.1:n.*1982C>T
ENST00000697681.1:c.*2179C>T	ENSP00000513393.1:n.*2179C>T
ENST00000697683.1:c.*1954C>T	ENSP00000513395.1:n.*1954C>T
ENST00000697685.1:c.*1715C>T	ENSP00000513396.1:n.*1715C>T
ENST00000697686.1:c.789C>T	ENSP00000513397.1:p.Phe263=
ENST00000697689.1:c.*1441-1582C>T	ENSP00000513398.1:n.*1441-1582C>T
ENST00000697690.1:c.905-1582C>T	ENSP00000513399.1:n.905-1582C>T
ENST00000697691.1:c.*990C>T	ENSP00000513400.1:n.*990C>T
ENST00000697692.1:c.*1030C>T	ENSP00000513401.1:n.*1030C>T
ENST00000697694.1:c.667C>T	ENSP00000513402.1:p.Gln223Ter
ENST00000697695.1:n.1625C>T
ENST00000337432.9:c.1018C>T MANE Select	ENSP00000336701.4:p.Gln340Ter
ENST00000337432.8:c.1018C>T	ENSP00000336701.4:p.Gln340Ter
ENST00000413590.5:c.659C>T
ENST00000461706.1:n.205C>T
ENST00000475762.5:c.*1654C>T	ENSP00000432421.1:n.*1654C>T
ENST00000482007.5:c.*446C>T	ENSP00000433332.1:n.*446C>T
ENST00000487525.5:c.*594C>T	ENSP00000431637.1:n.*594C>T
ENST00000578151.1:n.240-1582C>T
ENST00000581221.5:n.533C>T
ENST00000583539.5:c.1018C>T	ENSP00000463121.1:p.Gln340Ter
ENST00000584804.1:c.252C>T	ENSP00000463658.1:p.Phe84=
NM_058216.2:c.1018C>T	NP_478123.1:p.Gln340Ter
NR_103872.1:n.922C>T
XM_006722001.2:c.1021C>T	XP_006722064.1:p.Gln341Ter
XM_006722002.2:c.957C>T	XP_006722065.1:p.Phe319=
XM_006722004.2:c.670C>T	XP_006722067.1:p.Gln224Ter
XM_006722005.2:c.670C>T	XP_006722068.1:p.Gln224Ter
XM_011525092.1:c.670C>T	XP_011523394.1:p.Gln224Ter
XM_011525093.1:c.670C>T	XP_011523395.1:p.Gln224Ter
XM_011525094.1:c.670C>T	XP_011523396.1:p.Gln224Ter
XR_934513.1:n.1236C>T
XR_934514.1:n.1239C>T
XR_934886.1:n.149+5535G>A
XM_006722001.4:c.1021C>T	XP_006722064.1:p.Gln341Ter
XM_006722002.4:c.957C>T	XP_006722065.1:p.Phe319=
XM_006722004.3:c.670C>T	XP_006722067.1:p.Gln224Ter
XM_006722005.3:c.670C>T	XP_006722068.1:p.Gln224Ter
XM_011525092.2:c.670C>T	XP_011523394.1:p.Gln224Ter
XM_011525093.2:c.670C>T	XP_011523395.1:p.Gln224Ter
XM_011525094.2:c.670C>T	XP_011523396.1:p.Gln224Ter
XM_017024914.1:c.667C>T	XP_016880403.1:p.Gln223Ter
XM_017024915.1:c.667C>T	XP_016880404.1:p.Gln223Ter
XM_017024916.1:c.667C>T	XP_016880405.1:p.Gln223Ter
XM_017024917.1:c.667C>T	XP_016880406.1:p.Gln223Ter
XM_017024918.2:c.667C>T	XP_016880407.1:p.Gln223Ter
XM_017024919.1:c.606C>T	XP_016880408.1:p.Phe202=
XR_934513.3:n.1667C>T
XR_934514.3:n.1670C>T
XR_934886.2:n.149+5535G>A
NM_058216.3:c.1018C>T MANE Select	NP_478123.1:p.Gln340Ter
NR_103872.2:n.893C>T