Canonical Allele Identifier: CA366711941

Gene: RNF216

Linked Data

• gnomAD v4: 7-5641360-C-A
• MyVariant Identifiers: chr7:g.5680991C>A (hg19) ; chr7:g.5641360C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641360C>A , CM000669.2:g.5641360C>A	GRCh38
NC_000007.13:g.5680991C>A , CM000669.1:g.5680991C>A	GRCh37
NC_000007.12:g.5647517C>A	NCBI36
NG_029374.1:g.145371G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2176G>T MANE Select	ENSP00000374552.3:p.Ala726Ser
ENST00000389900.8:c.*1293G>T	ENSP00000374550.4:n.*1293G>T
ENST00000389902.7:c.2176G>T	ENSP00000374552.3:p.Ala726Ser
ENST00000425013.6:c.2005G>T	ENSP00000404602.2:p.Ala669Ser
ENST00000469375.1:n.393G>T
ENST00000484458.2:n.480G>T
NM_207111.3:c.2176G>T	NP_996994.1:p.Ala726Ser
NM_207116.2:c.2005G>T	NP_996999.1:p.Ala669Ser
XM_005249785.2:c.2176G>T	XP_005249842.1:p.Ala726Ser
XM_006715748.1:c.871G>T	XP_006715811.1:p.Ala291Ser
XM_011515434.1:c.2176G>T	XP_011513736.1:p.Ala726Ser
XM_011515436.1:c.871G>T	XP_011513738.1:p.Ala291Ser
XM_011515436.2:c.871G>T	XP_011513738.1:p.Ala291Ser
XM_017012363.2:c.2005G>T	XP_016867852.1:p.Ala669Ser
XM_024446805.1:c.2176G>T	XP_024302573.1:p.Ala726Ser
XM_024446806.1:c.871G>T	XP_024302574.1:p.Ala291Ser
XM_024446807.1:c.871G>T	XP_024302575.1:p.Ala291Ser
NM_001377156.1:c.2005G>T	NP_001364085.1:p.Ala669Ser
NM_207111.4:c.2176G>T MANE Select	NP_996994.1:p.Ala726Ser
NM_207116.3:c.2005G>T	NP_996999.1:p.Ala669Ser