Canonical Allele Identifier: CA404894399

Gene: RFXANK

Linked Data

• MyVariant Identifiers: chr19:g.19308341G>C (hg19) ; chr19:g.19197532G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19197532G>C , CM000681.2:g.19197532G>C	GRCh38
NC_000019.9:g.19308341G>C , CM000681.1:g.19308341G>C	GRCh37
NC_000019.8:g.19169341G>C	NCBI36
NG_007432.1:g.10334G>C , LRG_102:g.10334G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303088.9:c.349G>C MANE Select	ENSP00000305071.2:p.Val117Leu
ENST00000303088.8:c.349G>C	ENSP00000305071.2:p.Val117Leu
ENST00000392324.8:c.280G>C	ENSP00000376138.3:p.Val94Leu
ENST00000407360.7:c.349G>C	ENSP00000384572.3:p.Val117Leu
ENST00000456252.7:c.283G>C	ENSP00000409138.2:p.Val95Leu
ENST00000535017.1:c.178G>C	ENSP00000444280.1:p.Val60Leu
ENST00000540981.5:c.283G>C	ENSP00000440325.2:p.Val95Leu
ENST00000541873.6:n.542G>C
ENST00000543118.1:n.278G>C
ENST00000545522.2:n.757G>C
ENST00000593273.5:c.346G>C	ENSP00000466913.1:p.Val116Leu
NM_001278727.1:c.283G>C	NP_001265656.1:p.Val95Leu
NM_001278728.1:c.280G>C	NP_001265657.1:p.Val94Leu
NM_003721.3:c.349G>C	NP_003712.1:p.Val117Leu
NM_134440.2:c.280G>C	NP_604389.1:p.Val94Leu
XM_005260134.3:c.349G>C	XP_005260191.1:p.Val117Leu
XM_005260135.2:c.349G>C	XP_005260192.1:p.Val117Leu
XM_005260136.3:c.346G>C	XP_005260193.1:p.Val116Leu
XM_005260137.3:c.346G>C	XP_005260194.1:p.Val116Leu
XM_006722930.2:c.346G>C	XP_006722993.1:p.Val116Leu
XM_005260134.5:c.349G>C	XP_005260191.1:p.Val117Leu
XM_005260135.3:c.349G>C	XP_005260192.1:p.Val117Leu
XM_005260136.5:c.346G>C	XP_005260193.1:p.Val116Leu
XM_005260137.4:c.346G>C	XP_005260194.1:p.Val116Leu
XM_006722930.4:c.346G>C	XP_006722993.1:p.Val116Leu
XM_017027415.1:c.349G>C	XP_016882904.1:p.Val117Leu
XM_017027416.1:c.283G>C	XP_016882905.1:p.Val95Leu
NM_003721.4:c.349G>C MANE Select	NP_003712.1:p.Val117Leu
NM_001370233.1:c.349G>C	NP_001357162.1:p.Val117Leu
NM_001370234.1:c.283G>C	NP_001357163.1:p.Val95Leu
NM_001370235.1:c.346G>C	NP_001357164.1:p.Val116Leu
NM_001370236.1:c.346G>C	NP_001357165.1:p.Val116Leu
NM_001370237.1:c.346G>C	NP_001357166.1:p.Val116Leu
NM_001370238.1:c.349G>C	NP_001357167.1:p.Val117Leu
NM_001278727.2:c.283G>C	NP_001265656.1:p.Val95Leu
NM_001278728.2:c.280G>C	NP_001265657.1:p.Val94Leu
NM_134440.3:c.280G>C	NP_604389.1:p.Val94Leu