Canonical Allele Identifier: CA366711927

Gene: RNF216

Linked Data

• dbSNP Id: rs1217887791
• gnomAD v2: 7-5680982-T-C
• gnomAD v4: 7-5641351-T-C
• MyVariant Identifiers: chr7:g.5680982T>C (hg19) ; chr7:g.5641351T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641351T>C , CM000669.2:g.5641351T>C	GRCh38
NC_000007.13:g.5680982T>C , CM000669.1:g.5680982T>C	GRCh37
NC_000007.12:g.5647508T>C	NCBI36
NG_029374.1:g.145380A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2185A>G MANE Select	ENSP00000374552.3:p.Ile729Val
ENST00000389900.8:c.*1302A>G	ENSP00000374550.4:n.*1302A>G
ENST00000389902.7:c.2185A>G	ENSP00000374552.3:p.Ile729Val
ENST00000425013.6:c.2014A>G	ENSP00000404602.2:p.Ile672Val
ENST00000469375.1:n.402A>G
ENST00000484458.2:n.489A>G
NM_207111.3:c.2185A>G	NP_996994.1:p.Ile729Val
NM_207116.2:c.2014A>G	NP_996999.1:p.Ile672Val
XM_005249785.2:c.2185A>G	XP_005249842.1:p.Ile729Val
XM_006715748.1:c.880A>G	XP_006715811.1:p.Ile294Val
XM_011515434.1:c.2185A>G	XP_011513736.1:p.Ile729Val
XM_011515436.1:c.880A>G	XP_011513738.1:p.Ile294Val
XM_011515436.2:c.880A>G	XP_011513738.1:p.Ile294Val
XM_017012363.2:c.2014A>G	XP_016867852.1:p.Ile672Val
XM_024446805.1:c.2185A>G	XP_024302573.1:p.Ile729Val
XM_024446806.1:c.880A>G	XP_024302574.1:p.Ile294Val
XM_024446807.1:c.880A>G	XP_024302575.1:p.Ile294Val
NM_001377156.1:c.2014A>G	NP_001364085.1:p.Ile672Val
NM_207111.4:c.2185A>G MANE Select	NP_996994.1:p.Ile729Val
NM_207116.3:c.2014A>G	NP_996999.1:p.Ile672Val