Canonical Allele Identifier: CA404894461

Gene: RFXANK

Linked Data

• gnomAD v4: 19-19197541-C-T
• MyVariant Identifiers: chr19:g.19308350C>T (hg19) ; chr19:g.19197541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19197541C>T , CM000681.2:g.19197541C>T	GRCh38
NC_000019.9:g.19308350C>T , CM000681.1:g.19308350C>T	GRCh37
NC_000019.8:g.19169350C>T	NCBI36
NG_007432.1:g.10343C>T , LRG_102:g.10343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303088.9:c.358C>T MANE Select	ENSP00000305071.2:p.Pro120Ser
ENST00000303088.8:c.358C>T	ENSP00000305071.2:p.Pro120Ser
ENST00000392324.8:c.289C>T	ENSP00000376138.3:p.Pro97Ser
ENST00000407360.7:c.358C>T	ENSP00000384572.3:p.Pro120Ser
ENST00000456252.7:c.292C>T	ENSP00000409138.2:p.Pro98Ser
ENST00000535017.1:c.187C>T	ENSP00000444280.1:p.Pro63Ser
ENST00000540981.5:c.292C>T	ENSP00000440325.2:p.Pro98Ser
ENST00000541873.6:n.551C>T
ENST00000543118.1:n.287C>T
ENST00000545522.2:n.766C>T
ENST00000593273.5:c.355C>T	ENSP00000466913.1:p.Pro119Ser
NM_001278727.1:c.292C>T	NP_001265656.1:p.Pro98Ser
NM_001278728.1:c.289C>T	NP_001265657.1:p.Pro97Ser
NM_003721.3:c.358C>T	NP_003712.1:p.Pro120Ser
NM_134440.2:c.289C>T	NP_604389.1:p.Pro97Ser
XM_005260134.3:c.358C>T	XP_005260191.1:p.Pro120Ser
XM_005260135.2:c.358C>T	XP_005260192.1:p.Pro120Ser
XM_005260136.3:c.355C>T	XP_005260193.1:p.Pro119Ser
XM_005260137.3:c.355C>T	XP_005260194.1:p.Pro119Ser
XM_006722930.2:c.355C>T	XP_006722993.1:p.Pro119Ser
XM_005260134.5:c.358C>T	XP_005260191.1:p.Pro120Ser
XM_005260135.3:c.358C>T	XP_005260192.1:p.Pro120Ser
XM_005260136.5:c.355C>T	XP_005260193.1:p.Pro119Ser
XM_005260137.4:c.355C>T	XP_005260194.1:p.Pro119Ser
XM_006722930.4:c.355C>T	XP_006722993.1:p.Pro119Ser
XM_017027415.1:c.358C>T	XP_016882904.1:p.Pro120Ser
XM_017027416.1:c.292C>T	XP_016882905.1:p.Pro98Ser
NM_003721.4:c.358C>T MANE Select	NP_003712.1:p.Pro120Ser
NM_001370233.1:c.358C>T	NP_001357162.1:p.Pro120Ser
NM_001370234.1:c.292C>T	NP_001357163.1:p.Pro98Ser
NM_001370235.1:c.355C>T	NP_001357164.1:p.Pro119Ser
NM_001370236.1:c.355C>T	NP_001357165.1:p.Pro119Ser
NM_001370237.1:c.355C>T	NP_001357166.1:p.Pro119Ser
NM_001370238.1:c.358C>T	NP_001357167.1:p.Pro120Ser
NM_001278727.2:c.292C>T	NP_001265656.1:p.Pro98Ser
NM_001278728.2:c.289C>T	NP_001265657.1:p.Pro97Ser
NM_134440.3:c.289C>T	NP_604389.1:p.Pro97Ser