Canonical Allele Identifier: CA9322720

Gene: RFXANK

Linked Data

• dbSNP Id: rs769689430
• ExAC: 19:19308356 G / A
• gnomAD v2: 19-19308356-G-A
• gnomAD v4: 19-19197547-G-A
• MyVariant Identifiers: chr19:g.19308356G>A (hg19) ; chr19:g.19197547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19197547G>A , CM000681.2:g.19197547G>A	GRCh38
NC_000019.9:g.19308356G>A , CM000681.1:g.19308356G>A	GRCh37
NC_000019.8:g.19169356G>A	NCBI36
NG_007432.1:g.10349G>A , LRG_102:g.10349G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303088.9:c.364G>A MANE Select	ENSP00000305071.2:p.Glu122Lys
ENST00000303088.8:c.364G>A	ENSP00000305071.2:p.Glu122Lys
ENST00000392324.8:c.295G>A	ENSP00000376138.3:p.Glu99Lys
ENST00000407360.7:c.364G>A	ENSP00000384572.3:p.Glu122Lys
ENST00000456252.7:c.298G>A	ENSP00000409138.2:p.Glu100Lys
ENST00000535017.1:c.193G>A	ENSP00000444280.1:p.Glu65Lys
ENST00000540981.5:c.298G>A	ENSP00000440325.2:p.Glu100Lys
ENST00000541873.6:n.557G>A
ENST00000543118.1:n.293G>A
ENST00000545522.2:n.772G>A
ENST00000593273.5:c.361G>A	ENSP00000466913.1:p.Glu121Lys
NM_001278727.1:c.298G>A	NP_001265656.1:p.Glu100Lys
NM_001278728.1:c.295G>A	NP_001265657.1:p.Glu99Lys
NM_003721.3:c.364G>A	NP_003712.1:p.Glu122Lys
NM_134440.2:c.295G>A	NP_604389.1:p.Glu99Lys
XM_005260134.3:c.364G>A	XP_005260191.1:p.Glu122Lys
XM_005260135.2:c.364G>A	XP_005260192.1:p.Glu122Lys
XM_005260136.3:c.361G>A	XP_005260193.1:p.Glu121Lys
XM_005260137.3:c.361G>A	XP_005260194.1:p.Glu121Lys
XM_006722930.2:c.361G>A	XP_006722993.1:p.Glu121Lys
XM_005260134.5:c.364G>A	XP_005260191.1:p.Glu122Lys
XM_005260135.3:c.364G>A	XP_005260192.1:p.Glu122Lys
XM_005260136.5:c.361G>A	XP_005260193.1:p.Glu121Lys
XM_005260137.4:c.361G>A	XP_005260194.1:p.Glu121Lys
XM_006722930.4:c.361G>A	XP_006722993.1:p.Glu121Lys
XM_017027415.1:c.364G>A	XP_016882904.1:p.Glu122Lys
XM_017027416.1:c.298G>A	XP_016882905.1:p.Glu100Lys
NM_003721.4:c.364G>A MANE Select	NP_003712.1:p.Glu122Lys
NM_001370233.1:c.364G>A	NP_001357162.1:p.Glu122Lys
NM_001370234.1:c.298G>A	NP_001357163.1:p.Glu100Lys
NM_001370235.1:c.361G>A	NP_001357164.1:p.Glu121Lys
NM_001370236.1:c.361G>A	NP_001357165.1:p.Glu121Lys
NM_001370237.1:c.361G>A	NP_001357166.1:p.Glu121Lys
NM_001370238.1:c.364G>A	NP_001357167.1:p.Glu122Lys
NM_001278727.2:c.298G>A	NP_001265656.1:p.Glu100Lys
NM_001278728.2:c.295G>A	NP_001265657.1:p.Glu99Lys
NM_134440.3:c.295G>A	NP_604389.1:p.Glu99Lys