Canonical Allele Identifier: CA306277014

Gene: RFXANK

Linked Data

• dbSNP Id: rs73922823
• gnomAD v2: 19-19308194-T-C
• gnomAD v3: 19-19197385-T-C
• gnomAD v4: 19-19197385-T-C
• MyVariant Identifiers: chr19:g.19308194T>C (hg19) ; chr19:g.19197385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.19197385T>C , CM000681.2:g.19197385T>C	GRCh38
NC_000019.9:g.19308194T>C , CM000681.1:g.19308194T>C	GRCh37
NC_000019.8:g.19169194T>C	NCBI36
NG_007432.1:g.10187T>C , LRG_102:g.10187T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000303088.9:c.337+134T>C MANE Select	ENSP00000305071.2:n.337+134T>C
ENST00000303088.8:c.337+134T>C	ENSP00000305071.2:n.337+134T>C
ENST00000392324.8:c.269-136T>C	ENSP00000376138.3:n.269-136T>C
ENST00000407360.7:c.337+134T>C	ENSP00000384572.3:n.337+134T>C
ENST00000456252.7:c.272-136T>C	ENSP00000409138.2:n.272-136T>C
ENST00000535017.1:c.167-136T>C	ENSP00000444280.1:n.167-136T>C
ENST00000540981.5:c.272-136T>C	ENSP00000440325.2:n.272-136T>C
ENST00000541873.6:n.530+134T>C
ENST00000543118.1:n.131T>C
ENST00000543157.7:n.870T>C
ENST00000545522.2:n.610T>C
ENST00000593273.5:c.334+134T>C	ENSP00000466913.1:n.334+134T>C
NM_001278727.1:c.272-136T>C	NP_001265656.1:n.272-136T>C
NM_001278728.1:c.269-136T>C	NP_001265657.1:n.269-136T>C
NM_003721.3:c.337+134T>C	NP_003712.1:n.337+134T>C
NM_134440.2:c.269-136T>C	NP_604389.1:n.269-136T>C
XM_005260134.3:c.337+134T>C	XP_005260191.1:n.337+134T>C
XM_005260135.2:c.337+134T>C	XP_005260192.1:n.337+134T>C
XM_005260136.3:c.334+134T>C	XP_005260193.1:n.334+134T>C
XM_005260137.3:c.334+134T>C	XP_005260194.1:n.334+134T>C
XM_006722930.2:c.334+134T>C	XP_006722993.1:n.334+134T>C
XM_005260134.5:c.337+134T>C	XP_005260191.1:n.337+134T>C
XM_005260135.3:c.337+134T>C	XP_005260192.1:n.337+134T>C
XM_005260136.5:c.334+134T>C	XP_005260193.1:n.334+134T>C
XM_005260137.4:c.334+134T>C	XP_005260194.1:n.334+134T>C
XM_006722930.4:c.334+134T>C	XP_006722993.1:n.334+134T>C
XM_017027415.1:c.337+134T>C	XP_016882904.1:n.337+134T>C
XM_017027416.1:c.272-136T>C	XP_016882905.1:n.272-136T>C
NM_003721.4:c.337+134T>C MANE Select	NP_003712.1:n.337+134T>C
NM_001370233.1:c.337+134T>C	NP_001357162.1:n.337+134T>C
NM_001370234.1:c.272-136T>C	NP_001357163.1:n.272-136T>C
NM_001370235.1:c.334+134T>C	NP_001357164.1:n.334+134T>C
NM_001370236.1:c.334+134T>C	NP_001357165.1:n.334+134T>C
NM_001370237.1:c.334+134T>C	NP_001357166.1:n.334+134T>C
NM_001370238.1:c.337+134T>C	NP_001357167.1:n.337+134T>C
NM_001278727.2:c.272-136T>C	NP_001265656.1:n.272-136T>C
NM_001278728.2:c.269-136T>C	NP_001265657.1:n.269-136T>C
NM_134440.3:c.269-136T>C	NP_604389.1:n.269-136T>C