Canonical Allele Identifier: CA404894551

Gene: RFXANK

Linked Data

• MyVariant Identifiers: chr19:g.19308365T>C (hg19) ; chr19:g.19197556T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19197556T>C , CM000681.2:g.19197556T>C	GRCh38
NC_000019.9:g.19308365T>C , CM000681.1:g.19308365T>C	GRCh37
NC_000019.8:g.19169365T>C	NCBI36
NG_007432.1:g.10358T>C , LRG_102:g.10358T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303088.9:c.373T>C MANE Select	ENSP00000305071.2:p.Phe125Leu
ENST00000303088.8:c.373T>C	ENSP00000305071.2:p.Phe125Leu
ENST00000392324.8:c.304T>C	ENSP00000376138.3:p.Phe102Leu
ENST00000407360.7:c.373T>C	ENSP00000384572.3:p.Phe125Leu
ENST00000456252.7:c.307T>C	ENSP00000409138.2:p.Phe103Leu
ENST00000535017.1:c.202T>C	ENSP00000444280.1:p.Phe68Leu
ENST00000540981.5:c.307T>C	ENSP00000440325.2:p.Phe103Leu
ENST00000541873.6:n.566T>C
ENST00000543118.1:n.302T>C
ENST00000545522.2:n.781T>C
ENST00000593273.5:c.370T>C	ENSP00000466913.1:p.Phe124Leu
NM_001278727.1:c.307T>C	NP_001265656.1:p.Phe103Leu
NM_001278728.1:c.304T>C	NP_001265657.1:p.Phe102Leu
NM_003721.3:c.373T>C	NP_003712.1:p.Phe125Leu
NM_134440.2:c.304T>C	NP_604389.1:p.Phe102Leu
XM_005260134.3:c.373T>C	XP_005260191.1:p.Phe125Leu
XM_005260135.2:c.373T>C	XP_005260192.1:p.Phe125Leu
XM_005260136.3:c.370T>C	XP_005260193.1:p.Phe124Leu
XM_005260137.3:c.370T>C	XP_005260194.1:p.Phe124Leu
XM_006722930.2:c.370T>C	XP_006722993.1:p.Phe124Leu
XM_005260134.5:c.373T>C	XP_005260191.1:p.Phe125Leu
XM_005260135.3:c.373T>C	XP_005260192.1:p.Phe125Leu
XM_005260136.5:c.370T>C	XP_005260193.1:p.Phe124Leu
XM_005260137.4:c.370T>C	XP_005260194.1:p.Phe124Leu
XM_006722930.4:c.370T>C	XP_006722993.1:p.Phe124Leu
XM_017027415.1:c.373T>C	XP_016882904.1:p.Phe125Leu
XM_017027416.1:c.307T>C	XP_016882905.1:p.Phe103Leu
NM_003721.4:c.373T>C MANE Select	NP_003712.1:p.Phe125Leu
NM_001370233.1:c.373T>C	NP_001357162.1:p.Phe125Leu
NM_001370234.1:c.307T>C	NP_001357163.1:p.Phe103Leu
NM_001370235.1:c.370T>C	NP_001357164.1:p.Phe124Leu
NM_001370236.1:c.370T>C	NP_001357165.1:p.Phe124Leu
NM_001370237.1:c.370T>C	NP_001357166.1:p.Phe124Leu
NM_001370238.1:c.373T>C	NP_001357167.1:p.Phe125Leu
NM_001278727.2:c.307T>C	NP_001265656.1:p.Phe103Leu
NM_001278728.2:c.304T>C	NP_001265657.1:p.Phe102Leu
NM_134440.3:c.304T>C	NP_604389.1:p.Phe102Leu