Canonical Allele Identifier: CA363868220

Gene: RNF8

Linked Data

• MyVariant Identifiers: chr6:g.37348936T>G (hg19) ; chr6:g.37381160T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37381160T>G , CM000668.2:g.37381160T>G	GRCh38
NC_000006.11:g.37348936T>G , CM000668.1:g.37348936T>G	GRCh37
NC_000006.10:g.37456914T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000373479.9:c.1247T>G MANE Select	ENSP00000362578.4:p.Leu416Trp
ENST00000229866.10:c.*1056T>G	ENSP00000229866.6:n.*1056T>G
ENST00000373479.8:c.1247T>G	ENSP00000362578.4:p.Leu416Trp
ENST00000469731.5:c.1236+4127T>G	ENSP00000418879.1:n.1236+4127T>G
ENST00000498460.1:c.514+4127T>G
NM_003958.3:c.1247T>G	NP_003949.1:p.Leu416Trp
NM_183078.2:c.1236+4127T>G	NP_898901.1:n.1236+4127T>G
NR_046399.1:n.1546T>G
XM_006715241.2:c.1157T>G	XP_006715304.1:p.Leu386Trp
XM_006715242.2:c.1146+4127T>G	XP_006715305.1:n.1146+4127T>G
XR_427852.1:n.1472T>G
XR_427853.2:n.1461+4127T>G
XR_427854.2:n.1471T>G
XR_427855.2:n.1460+4127T>G
XR_427856.1:n.1381T>G
XR_427857.2:n.1370+4127T>G
XM_006715241.3:c.1157T>G	XP_006715304.1:p.Leu386Trp
XM_006715242.3:c.1146+4127T>G	XP_006715305.1:n.1146+4127T>G
XM_017011462.1:c.1076T>G	XP_016866951.1:p.Leu359Trp
XM_017011463.1:c.1065+4127T>G	XP_016866952.1:n.1065+4127T>G
XM_017011464.1:c.1032+4127T>G	XP_016866953.1:n.1032+4127T>G
XR_001743731.2:n.1461T>G
XR_001743734.2:n.1544T>G
XR_427853.3:n.1450+4127T>G
NM_003958.4:c.1247T>G MANE Select	NP_003949.1:p.Leu416Trp
NM_183078.3:c.1236+4127T>G	NP_898901.1:n.1236+4127T>G
NR_046399.2:n.1535T>G