Canonical Allele Identifier: CA366711983

Gene: RNF216

Linked Data

• dbSNP Id: rs1481788249
• gnomAD v2: 7-5681008-C-G
• gnomAD v4: 7-5641377-C-G
• MyVariant Identifiers: chr7:g.5681008C>G (hg19) ; chr7:g.5641377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641377C>G , CM000669.2:g.5641377C>G	GRCh38
NC_000007.13:g.5681008C>G , CM000669.1:g.5681008C>G	GRCh37
NC_000007.12:g.5647534C>G	NCBI36
NG_029374.1:g.145354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2160-1G>C MANE Select	ENSP00000374552.3:n.2160-1G>C
ENST00000389900.8:c.*1277-1G>C	ENSP00000374550.4:n.*1277-1G>C
ENST00000389902.7:c.2160-1G>C	ENSP00000374552.3:n.2160-1G>C
ENST00000425013.6:c.1989-1G>C	ENSP00000404602.2:n.1989-1G>C
ENST00000469375.1:n.377-1G>C
ENST00000484458.2:n.464-1G>C
NM_207111.3:c.2160-1G>C	NP_996994.1:n.2160-1G>C
NM_207116.2:c.1989-1G>C	NP_996999.1:n.1989-1G>C
XM_005249785.2:c.2160-1G>C	XP_005249842.1:n.2160-1G>C
XM_006715748.1:c.855-1G>C	XP_006715811.1:n.855-1G>C
XM_011515434.1:c.2160-1G>C	XP_011513736.1:n.2160-1G>C
XM_011515436.1:c.855-1G>C	XP_011513738.1:n.855-1G>C
XM_011515436.2:c.855-1G>C	XP_011513738.1:n.855-1G>C
XM_017012363.2:c.1989-1G>C	XP_016867852.1:n.1989-1G>C
XM_024446805.1:c.2160-1G>C	XP_024302573.1:n.2160-1G>C
XM_024446806.1:c.855-1G>C	XP_024302574.1:n.855-1G>C
XM_024446807.1:c.855-1G>C	XP_024302575.1:n.855-1G>C
NM_001377156.1:c.1989-1G>C	NP_001364085.1:n.1989-1G>C
NM_207111.4:c.2160-1G>C MANE Select	NP_996994.1:n.2160-1G>C
NM_207116.3:c.1989-1G>C	NP_996999.1:n.1989-1G>C