Canonical Allele Identifier: CA9322722

Gene: RFXANK

Linked Data

• ClinVar Variation Id: 1479118
• ClinVar RCV Id: RCV001976622
• dbSNP Id: rs762597760
• ExAC: 19:19308360 G / A
• gnomAD v2: 19-19308360-G-A
• gnomAD v3: 19-19197551-G-A
• gnomAD v4: 19-19197551-G-A
• MyVariant Identifiers: chr19:g.19308360G>A (hg19) ; chr19:g.19197551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19197551G>A , CM000681.2:g.19197551G>A	GRCh38
NC_000019.9:g.19308360G>A , CM000681.1:g.19308360G>A	GRCh37
NC_000019.8:g.19169360G>A	NCBI36
NG_007432.1:g.10353G>A , LRG_102:g.10353G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000303088.9:c.368G>A MANE Select	ENSP00000305071.2:p.Arg123His
ENST00000303088.8:c.368G>A	ENSP00000305071.2:p.Arg123His
ENST00000392324.8:c.299G>A	ENSP00000376138.3:p.Arg100His
ENST00000407360.7:c.368G>A	ENSP00000384572.3:p.Arg123His
ENST00000456252.7:c.302G>A	ENSP00000409138.2:p.Arg101His
ENST00000535017.1:c.197G>A	ENSP00000444280.1:p.Arg66His
ENST00000540981.5:c.302G>A	ENSP00000440325.2:p.Arg101His
ENST00000541873.6:n.561G>A
ENST00000543118.1:n.297G>A
ENST00000545522.2:n.776G>A
ENST00000593273.5:c.365G>A	ENSP00000466913.1:p.Arg122His
NM_001278727.1:c.302G>A	NP_001265656.1:p.Arg101His
NM_001278728.1:c.299G>A	NP_001265657.1:p.Arg100His
NM_003721.3:c.368G>A	NP_003712.1:p.Arg123His
NM_134440.2:c.299G>A	NP_604389.1:p.Arg100His
XM_005260134.3:c.368G>A	XP_005260191.1:p.Arg123His
XM_005260135.2:c.368G>A	XP_005260192.1:p.Arg123His
XM_005260136.3:c.365G>A	XP_005260193.1:p.Arg122His
XM_005260137.3:c.365G>A	XP_005260194.1:p.Arg122His
XM_006722930.2:c.365G>A	XP_006722993.1:p.Arg122His
XM_005260134.5:c.368G>A	XP_005260191.1:p.Arg123His
XM_005260135.3:c.368G>A	XP_005260192.1:p.Arg123His
XM_005260136.5:c.365G>A	XP_005260193.1:p.Arg122His
XM_005260137.4:c.365G>A	XP_005260194.1:p.Arg122His
XM_006722930.4:c.365G>A	XP_006722993.1:p.Arg122His
XM_017027415.1:c.368G>A	XP_016882904.1:p.Arg123His
XM_017027416.1:c.302G>A	XP_016882905.1:p.Arg101His
NM_003721.4:c.368G>A MANE Select	NP_003712.1:p.Arg123His
NM_001370233.1:c.368G>A	NP_001357162.1:p.Arg123His
NM_001370234.1:c.302G>A	NP_001357163.1:p.Arg101His
NM_001370235.1:c.365G>A	NP_001357164.1:p.Arg122His
NM_001370236.1:c.365G>A	NP_001357165.1:p.Arg122His
NM_001370237.1:c.365G>A	NP_001357166.1:p.Arg122His
NM_001370238.1:c.368G>A	NP_001357167.1:p.Arg123His
NM_001278727.2:c.302G>A	NP_001265656.1:p.Arg101His
NM_001278728.2:c.299G>A	NP_001265657.1:p.Arg100His
NM_134440.3:c.299G>A	NP_604389.1:p.Arg100His