Canonical Allele Identifier: CA1087963085

Gene: RNF8

Linked Data

• dbSNP Id: rs1770489336
• gnomAD v3: 6-37386198-C-T
• gnomAD v4: 6-37386198-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37386198C>T , CM000668.2:g.37386198C>T	GRCh38
NC_000006.11:g.37353974C>T , CM000668.1:g.37353974C>T	GRCh37
NC_000006.10:g.37461952C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000373479.9:c.1442-4544C>T MANE Select	ENSP00000362578.4:n.1442-4544C>T
ENST00000229866.10:c.*1251-4544C>T	ENSP00000229866.6:n.*1251-4544C>T
ENST00000373479.8:c.1442-4544C>T	ENSP00000362578.4:n.1442-4544C>T
ENST00000469731.5:c.1237-4544C>T	ENSP00000418879.1:n.1237-4544C>T
ENST00000498460.1:c.515-4544C>T
NM_003958.3:c.1442-4544C>T	NP_003949.1:n.1442-4544C>T
NM_183078.2:c.1237-4544C>T	NP_898901.1:n.1237-4544C>T
NR_046399.1:n.1741-4544C>T
XM_006715241.2:c.1352-4544C>T	XP_006715304.1:n.1352-4544C>T
XM_006715242.2:c.1147-4544C>T	XP_006715305.1:n.1147-4544C>T
XR_427853.2:n.1462-4544C>T
XR_427854.2:n.1666-4544C>T
XR_427855.2:n.1461-4544C>T
XR_427857.2:n.1371-4544C>T
XM_006715241.3:c.1352-4544C>T	XP_006715304.1:n.1352-4544C>T
XM_006715242.3:c.1147-4544C>T	XP_006715305.1:n.1147-4544C>T
XM_017011462.1:c.1271-4544C>T	XP_016866951.1:n.1271-4544C>T
XM_017011463.1:c.1066-4544C>T	XP_016866952.1:n.1066-4544C>T
XM_017011464.1:c.1033-4544C>T	XP_016866953.1:n.1033-4544C>T
XR_001743731.2:n.1656-4544C>T
XR_001743734.2:n.1739-4544C>T
XR_427853.3:n.1451-4544C>T
NM_003958.4:c.1442-4544C>T MANE Select	NP_003949.1:n.1442-4544C>T
NM_183078.3:c.1237-4544C>T	NP_898901.1:n.1237-4544C>T
NR_046399.2:n.1730-4544C>T