Canonical Allele Identifier: CA4147840

Gene: RNF216

Linked Data

• ClinVar Variation Id: 2131954
• ClinVar RCV Id: RCV003055911
• dbSNP Id: rs778078684
• ExAC: 7:5680788 G / A
• gnomAD v2: 7-5680788-G-A
• gnomAD v3: 7-5641157-G-A
• gnomAD v4: 7-5641157-G-A
• MyVariant Identifiers: chr7:g.5680788G>A (hg19) ; chr7:g.5641157G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641157G>A , CM000669.2:g.5641157G>A	GRCh38
NC_000007.13:g.5680788G>A , CM000669.1:g.5680788G>A	GRCh37
NC_000007.12:g.5647314G>A	NCBI36
NG_029374.1:g.145574C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2379C>T MANE Select	ENSP00000374552.3:p.Pro793=
ENST00000389900.8:c.*1496C>T	ENSP00000374550.4:n.*1496C>T
ENST00000389902.7:c.2379C>T	ENSP00000374552.3:p.Pro793=
ENST00000425013.6:c.2208C>T	ENSP00000404602.2:p.Pro736=
ENST00000469375.1:n.596C>T
NM_207111.3:c.2379C>T	NP_996994.1:p.Pro793=
NM_207116.2:c.2208C>T	NP_996999.1:p.Pro736=
XM_005249785.2:c.2379C>T	XP_005249842.1:p.Pro793=
XM_006715748.1:c.1074C>T	XP_006715811.1:p.Pro358=
XM_011515434.1:c.2379C>T	XP_011513736.1:p.Pro793=
XM_011515436.1:c.1074C>T	XP_011513738.1:p.Pro358=
XM_011515436.2:c.1074C>T	XP_011513738.1:p.Pro358=
XM_017012363.2:c.2208C>T	XP_016867852.1:p.Pro736=
XM_024446805.1:c.2379C>T	XP_024302573.1:p.Pro793=
XM_024446806.1:c.1074C>T	XP_024302574.1:p.Pro358=
XM_024446807.1:c.1074C>T	XP_024302575.1:p.Pro358=
NM_001377156.1:c.2208C>T	NP_001364085.1:p.Pro736=
NM_207111.4:c.2379C>T MANE Select	NP_996994.1:p.Pro793=
NM_207116.3:c.2208C>T	NP_996999.1:p.Pro736=