Canonical Allele Identifier: CA449990237

Gene: RNF8

Linked Data

• dbSNP Id: rs1480108707
• MyVariant Identifiers: chr6:g.37349040T>C (hg19) ; chr6:g.37381264T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37381264T>C , CM000668.2:g.37381264T>C	GRCh38
NC_000006.11:g.37349040T>C , CM000668.1:g.37349040T>C	GRCh37
NC_000006.10:g.37457018T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000373479.9:c.1351T>C MANE Select	ENSP00000362578.4:p.Leu451=
ENST00000229866.10:c.*1160T>C	ENSP00000229866.6:n.*1160T>C
ENST00000373479.8:c.1351T>C	ENSP00000362578.4:p.Leu451=
ENST00000469731.5:c.1236+4231T>C	ENSP00000418879.1:n.1236+4231T>C
ENST00000498460.1:c.514+4231T>C
NM_003958.3:c.1351T>C	NP_003949.1:p.Leu451=
NM_183078.2:c.1236+4231T>C	NP_898901.1:n.1236+4231T>C
NR_046399.1:n.1650T>C
XM_006715241.2:c.1261T>C	XP_006715304.1:p.Leu421=
XM_006715242.2:c.1146+4231T>C	XP_006715305.1:n.1146+4231T>C
XR_427853.2:n.1461+4231T>C
XR_427854.2:n.1575T>C
XR_427855.2:n.1460+4231T>C
XR_427857.2:n.1370+4231T>C
XM_006715241.3:c.1261T>C	XP_006715304.1:p.Leu421=
XM_006715242.3:c.1146+4231T>C	XP_006715305.1:n.1146+4231T>C
XM_017011462.1:c.1180T>C	XP_016866951.1:p.Leu394=
XM_017011463.1:c.1065+4231T>C	XP_016866952.1:n.1065+4231T>C
XM_017011464.1:c.1032+4231T>C	XP_016866953.1:n.1032+4231T>C
XR_001743731.2:n.1565T>C
XR_001743734.2:n.1648T>C
XR_427853.3:n.1450+4231T>C
NM_003958.4:c.1351T>C MANE Select	NP_003949.1:p.Leu451=
NM_183078.3:c.1236+4231T>C	NP_898901.1:n.1236+4231T>C
NR_046399.2:n.1639T>C