Canonical Allele Identifier: CA366711908

Gene: RNF216

Linked Data

• gnomAD v4: 7-5641344-T-A
• MyVariant Identifiers: chr7:g.5680975T>A (hg19) ; chr7:g.5641344T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5641344T>A , CM000669.2:g.5641344T>A	GRCh38
NC_000007.13:g.5680975T>A , CM000669.1:g.5680975T>A	GRCh37
NC_000007.12:g.5647501T>A	NCBI36
NG_029374.1:g.145387A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389902.8:c.2192A>T MANE Select	ENSP00000374552.3:p.Lys731Ile
ENST00000389900.8:c.*1309A>T	ENSP00000374550.4:n.*1309A>T
ENST00000389902.7:c.2192A>T	ENSP00000374552.3:p.Lys731Ile
ENST00000425013.6:c.2021A>T	ENSP00000404602.2:p.Lys674Ile
ENST00000469375.1:n.409A>T
NM_207111.3:c.2192A>T	NP_996994.1:p.Lys731Ile
NM_207116.2:c.2021A>T	NP_996999.1:p.Lys674Ile
XM_005249785.2:c.2192A>T	XP_005249842.1:p.Lys731Ile
XM_006715748.1:c.887A>T	XP_006715811.1:p.Lys296Ile
XM_011515434.1:c.2192A>T	XP_011513736.1:p.Lys731Ile
XM_011515436.1:c.887A>T	XP_011513738.1:p.Lys296Ile
XM_011515436.2:c.887A>T	XP_011513738.1:p.Lys296Ile
XM_017012363.2:c.2021A>T	XP_016867852.1:p.Lys674Ile
XM_024446805.1:c.2192A>T	XP_024302573.1:p.Lys731Ile
XM_024446806.1:c.887A>T	XP_024302574.1:p.Lys296Ile
XM_024446807.1:c.887A>T	XP_024302575.1:p.Lys296Ile
NM_001377156.1:c.2021A>T	NP_001364085.1:p.Lys674Ile
NM_207111.4:c.2192A>T MANE Select	NP_996994.1:p.Lys731Ile
NM_207116.3:c.2021A>T	NP_996999.1:p.Lys674Ile