Canonical Allele Identifier: CA4147861

Gene: RNF216

Linked Data

• ClinVar Variation Id: 1398969
• ClinVar RCV Id: RCV001915325
• dbSNP Id: rs377498743
• ExAC: 7:5680915 C / T
• gnomAD v2: 7-5680915-C-T
• gnomAD v4: 7-5641284-C-T
• MyVariant Identifiers: chr7:g.5680915C>T (hg19) ; chr7:g.5641284C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641284C>T , CM000669.2:g.5641284C>T	GRCh38
NC_000007.13:g.5680915C>T , CM000669.1:g.5680915C>T	GRCh37
NC_000007.12:g.5647441C>T	NCBI36
NG_029374.1:g.145447G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2252G>A MANE Select	ENSP00000374552.3:p.Arg751His
ENST00000389900.8:c.*1369G>A	ENSP00000374550.4:n.*1369G>A
ENST00000389902.7:c.2252G>A	ENSP00000374552.3:p.Arg751His
ENST00000425013.6:c.2081G>A	ENSP00000404602.2:p.Arg694His
ENST00000469375.1:n.469G>A
NM_207111.3:c.2252G>A	NP_996994.1:p.Arg751His
NM_207116.2:c.2081G>A	NP_996999.1:p.Arg694His
XM_005249785.2:c.2252G>A	XP_005249842.1:p.Arg751His
XM_006715748.1:c.947G>A	XP_006715811.1:p.Arg316His
XM_011515434.1:c.2252G>A	XP_011513736.1:p.Arg751His
XM_011515436.1:c.947G>A	XP_011513738.1:p.Arg316His
XM_011515436.2:c.947G>A	XP_011513738.1:p.Arg316His
XM_017012363.2:c.2081G>A	XP_016867852.1:p.Arg694His
XM_024446805.1:c.2252G>A	XP_024302573.1:p.Arg751His
XM_024446806.1:c.947G>A	XP_024302574.1:p.Arg316His
XM_024446807.1:c.947G>A	XP_024302575.1:p.Arg316His
NM_001377156.1:c.2081G>A	NP_001364085.1:p.Arg694His
NM_207111.4:c.2252G>A MANE Select	NP_996994.1:p.Arg751His
NM_207116.3:c.2081G>A	NP_996999.1:p.Arg694His