Canonical Allele Identifier: CA4147871

Gene: RNF216

Linked Data

• dbSNP Id: rs373552715
• ExAC: 7:5680984 C / T
• gnomAD v2: 7-5680984-C-T
• gnomAD v3: 7-5641353-C-T
• gnomAD v4: 7-5641353-C-T
• MyVariant Identifiers: chr7:g.5680984C>T (hg19) ; chr7:g.5641353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641353C>T , CM000669.2:g.5641353C>T	GRCh38
NC_000007.13:g.5680984C>T , CM000669.1:g.5680984C>T	GRCh37
NC_000007.12:g.5647510C>T	NCBI36
NG_029374.1:g.145378G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2183G>A MANE Select	ENSP00000374552.3:p.Arg728His
ENST00000389900.8:c.*1300G>A	ENSP00000374550.4:n.*1300G>A
ENST00000389902.7:c.2183G>A	ENSP00000374552.3:p.Arg728His
ENST00000425013.6:c.2012G>A	ENSP00000404602.2:p.Arg671His
ENST00000469375.1:n.400G>A
ENST00000484458.2:n.487G>A
NM_207111.3:c.2183G>A	NP_996994.1:p.Arg728His
NM_207116.2:c.2012G>A	NP_996999.1:p.Arg671His
XM_005249785.2:c.2183G>A	XP_005249842.1:p.Arg728His
XM_006715748.1:c.878G>A	XP_006715811.1:p.Arg293His
XM_011515434.1:c.2183G>A	XP_011513736.1:p.Arg728His
XM_011515436.1:c.878G>A	XP_011513738.1:p.Arg293His
XM_011515436.2:c.878G>A	XP_011513738.1:p.Arg293His
XM_017012363.2:c.2012G>A	XP_016867852.1:p.Arg671His
XM_024446805.1:c.2183G>A	XP_024302573.1:p.Arg728His
XM_024446806.1:c.878G>A	XP_024302574.1:p.Arg293His
XM_024446807.1:c.878G>A	XP_024302575.1:p.Arg293His
NM_001377156.1:c.2012G>A	NP_001364085.1:p.Arg671His
NM_207111.4:c.2183G>A MANE Select	NP_996994.1:p.Arg728His
NM_207116.3:c.2012G>A	NP_996999.1:p.Arg671His