Canonical Allele Identifier: CA15425499

Gene: RNF8

Linked Data

• dbSNP Id: rs195432
• gnomAD v2: 6-37358022-A-C
• gnomAD v3: 6-37390246-A-C
• gnomAD v4: 6-37390246-A-C
• MyVariant Identifiers: chr6:g.37358022A>C (hg19) ; chr6:g.37390246A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.37390246A>C , CM000668.2:g.37390246A>C	GRCh38
NC_000006.11:g.37358022A>C , CM000668.1:g.37358022A>C	GRCh37
NC_000006.10:g.37466000A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000373479.9:c.1442-496A>C MANE Select	ENSP00000362578.4:n.1442-496A>C
ENST00000229866.10:c.*1251-496A>C	ENSP00000229866.6:n.*1251-496A>C
ENST00000373479.8:c.1442-496A>C	ENSP00000362578.4:n.1442-496A>C
ENST00000469731.5:c.1237-496A>C	ENSP00000418879.1:n.1237-496A>C
ENST00000498460.1:c.515-496A>C
NM_003958.3:c.1442-496A>C	NP_003949.1:n.1442-496A>C
NM_183078.2:c.1237-496A>C	NP_898901.1:n.1237-496A>C
NR_046399.1:n.1741-496A>C
XM_006715241.2:c.1352-496A>C	XP_006715304.1:n.1352-496A>C
XM_006715242.2:c.1147-496A>C	XP_006715305.1:n.1147-496A>C
XR_427853.2:n.1462-496A>C
XR_427854.2:n.1666-496A>C
XR_427855.2:n.1461-496A>C
XR_427857.2:n.1371-496A>C
XM_006715241.3:c.1352-496A>C	XP_006715304.1:n.1352-496A>C
XM_006715242.3:c.1147-496A>C	XP_006715305.1:n.1147-496A>C
XM_017011462.1:c.1271-496A>C	XP_016866951.1:n.1271-496A>C
XM_017011463.1:c.1066-496A>C	XP_016866952.1:n.1066-496A>C
XM_017011464.1:c.1033-496A>C	XP_016866953.1:n.1033-496A>C
XR_001743731.2:n.1656-496A>C
XR_001743734.2:n.1739-496A>C
XR_427853.3:n.1451-496A>C
NM_003958.4:c.1442-496A>C MANE Select	NP_003949.1:n.1442-496A>C
NM_183078.3:c.1237-496A>C	NP_898901.1:n.1237-496A>C
NR_046399.2:n.1730-496A>C