Canonical Allele Identifier: CA363868244

Gene: RNF8

Linked Data

• MyVariant Identifiers: chr6:g.37348945C>T (hg19) ; chr6:g.37381169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37381169C>T , CM000668.2:g.37381169C>T	GRCh38
NC_000006.11:g.37348945C>T , CM000668.1:g.37348945C>T	GRCh37
NC_000006.10:g.37456923C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000373479.9:c.1256C>T MANE Select	ENSP00000362578.4:p.Ala419Val
ENST00000229866.10:c.*1065C>T	ENSP00000229866.6:n.*1065C>T
ENST00000373479.8:c.1256C>T	ENSP00000362578.4:p.Ala419Val
ENST00000469731.5:c.1236+4136C>T	ENSP00000418879.1:n.1236+4136C>T
ENST00000498460.1:c.514+4136C>T
NM_003958.3:c.1256C>T	NP_003949.1:p.Ala419Val
NM_183078.2:c.1236+4136C>T	NP_898901.1:n.1236+4136C>T
NR_046399.1:n.1555C>T
XM_006715241.2:c.1166C>T	XP_006715304.1:p.Ala389Val
XM_006715242.2:c.1146+4136C>T	XP_006715305.1:n.1146+4136C>T
XR_427852.1:n.1481C>T
XR_427853.2:n.1461+4136C>T
XR_427854.2:n.1480C>T
XR_427855.2:n.1460+4136C>T
XR_427856.1:n.1390C>T
XR_427857.2:n.1370+4136C>T
XM_006715241.3:c.1166C>T	XP_006715304.1:p.Ala389Val
XM_006715242.3:c.1146+4136C>T	XP_006715305.1:n.1146+4136C>T
XM_017011462.1:c.1085C>T	XP_016866951.1:p.Ala362Val
XM_017011463.1:c.1065+4136C>T	XP_016866952.1:n.1065+4136C>T
XM_017011464.1:c.1032+4136C>T	XP_016866953.1:n.1032+4136C>T
XR_001743731.2:n.1470C>T
XR_001743734.2:n.1553C>T
XR_427853.3:n.1450+4136C>T
NM_003958.4:c.1256C>T MANE Select	NP_003949.1:p.Ala419Val
NM_183078.3:c.1236+4136C>T	NP_898901.1:n.1236+4136C>T
NR_046399.2:n.1544C>T