Canonical Allele Identifier: CA566560147

Gene: RNF8

Linked Data

• dbSNP Id: rs1388655668
• gnomAD v2: 6-37353988-T-C
• gnomAD v3: 6-37386212-T-C
• gnomAD v4: 6-37386212-T-C
• MyVariant Identifiers: chr6:g.37353988T>C (hg19) ; chr6:g.37386212T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37386212T>C , CM000668.2:g.37386212T>C	GRCh38
NC_000006.11:g.37353988T>C , CM000668.1:g.37353988T>C	GRCh37
NC_000006.10:g.37461966T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373479.9:c.1442-4530T>C MANE Select	ENSP00000362578.4:n.1442-4530T>C
ENST00000229866.10:c.*1251-4530T>C	ENSP00000229866.6:n.*1251-4530T>C
ENST00000373479.8:c.1442-4530T>C	ENSP00000362578.4:n.1442-4530T>C
ENST00000469731.5:c.1237-4530T>C	ENSP00000418879.1:n.1237-4530T>C
ENST00000498460.1:c.515-4530T>C
NM_003958.3:c.1442-4530T>C	NP_003949.1:n.1442-4530T>C
NM_183078.2:c.1237-4530T>C	NP_898901.1:n.1237-4530T>C
NR_046399.1:n.1741-4530T>C
XM_006715241.2:c.1352-4530T>C	XP_006715304.1:n.1352-4530T>C
XM_006715242.2:c.1147-4530T>C	XP_006715305.1:n.1147-4530T>C
XR_427853.2:n.1462-4530T>C
XR_427854.2:n.1666-4530T>C
XR_427855.2:n.1461-4530T>C
XR_427857.2:n.1371-4530T>C
XM_006715241.3:c.1352-4530T>C	XP_006715304.1:n.1352-4530T>C
XM_006715242.3:c.1147-4530T>C	XP_006715305.1:n.1147-4530T>C
XM_017011462.1:c.1271-4530T>C	XP_016866951.1:n.1271-4530T>C
XM_017011463.1:c.1066-4530T>C	XP_016866952.1:n.1066-4530T>C
XM_017011464.1:c.1033-4530T>C	XP_016866953.1:n.1033-4530T>C
XR_001743731.2:n.1656-4530T>C
XR_001743734.2:n.1739-4530T>C
XR_427853.3:n.1451-4530T>C
NM_003958.4:c.1442-4530T>C MANE Select	NP_003949.1:n.1442-4530T>C
NM_183078.3:c.1237-4530T>C	NP_898901.1:n.1237-4530T>C
NR_046399.2:n.1730-4530T>C