Canonical Allele Identifier: CA449990249

Gene: RNF8

Linked Data

• dbSNP Id: rs1770250300
• gnomAD v4: 6-37381272-G-A
• MyVariant Identifiers: chr6:g.37349048G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37381272G>A , CM000668.2:g.37381272G>A	GRCh38
NC_000006.11:g.37349048G>A , CM000668.1:g.37349048G>A	GRCh37
NC_000006.10:g.37457026G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000373479.9:c.1359G>A MANE Select	ENSP00000362578.4:p.Leu453=
ENST00000229866.10:c.*1168G>A	ENSP00000229866.6:n.*1168G>A
ENST00000373479.8:c.1359G>A	ENSP00000362578.4:p.Leu453=
ENST00000469731.5:c.1236+4239G>A	ENSP00000418879.1:n.1236+4239G>A
ENST00000498460.1:c.514+4239G>A
NM_003958.3:c.1359G>A	NP_003949.1:p.Leu453=
NM_183078.2:c.1236+4239G>A	NP_898901.1:n.1236+4239G>A
NR_046399.1:n.1658G>A
XM_006715241.2:c.1269G>A	XP_006715304.1:p.Leu423=
XM_006715242.2:c.1146+4239G>A	XP_006715305.1:n.1146+4239G>A
XR_427853.2:n.1461+4239G>A
XR_427854.2:n.1583G>A
XR_427855.2:n.1460+4239G>A
XR_427857.2:n.1370+4239G>A
XM_006715241.3:c.1269G>A	XP_006715304.1:p.Leu423=
XM_006715242.3:c.1146+4239G>A	XP_006715305.1:n.1146+4239G>A
XM_017011462.1:c.1188G>A	XP_016866951.1:p.Leu396=
XM_017011463.1:c.1065+4239G>A	XP_016866952.1:n.1065+4239G>A
XM_017011464.1:c.1032+4239G>A	XP_016866953.1:n.1032+4239G>A
XR_001743731.2:n.1573G>A
XR_001743734.2:n.1656G>A
XR_427853.3:n.1450+4239G>A
NM_003958.4:c.1359G>A MANE Select	NP_003949.1:p.Leu453=
NM_183078.3:c.1236+4239G>A	NP_898901.1:n.1236+4239G>A
NR_046399.2:n.1647G>A