Canonical Allele Identifier: CA2063145

Gene: CARF WDR12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202971561C>G , CM000664.2:g.202971561C>G	GRCh38
NC_000002.11:g.203836284C>G , CM000664.1:g.203836284C>G	GRCh37
NC_000002.10:g.203544529C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024744.17:c.1154C>G (CARF) MANE Select	NP_079020.13:p.Pro385Arg
ENST00000438828.4:c.1154C>G (CARF) MANE Select	ENSP00000414644.1:p.Pro385Arg
NM_001104586.2:c.1154C>G (CARF)	NP_001098056.1:p.Pro385Arg
NM_001104586.3:c.1154C>G (CARF)	NP_001098056.1:p.Pro385Arg
NM_001104586.4:c.1154C>G (CARF)	NP_001098056.1:p.Pro385Arg
NM_001282910.1:c.926C>G (CARF)	NP_001269839.1:p.Pro309Arg
NM_001282910.2:c.926C>G (CARF)	NP_001269839.1:p.Pro309Arg
NM_001282910.3:c.926C>G (CARF)	NP_001269839.1:p.Pro309Arg
NM_001282911.1:c.926C>G (CARF)	NP_001269840.1:p.Pro309Arg
NM_001282911.2:c.926C>G (CARF)	NP_001269840.1:p.Pro309Arg
NM_001282911.3:c.926C>G (CARF)	NP_001269840.1:p.Pro309Arg
NM_001282912.1:c.890C>G (CARF)	NP_001269841.1:p.Pro297Arg
NM_001282912.2:c.890C>G (CARF)	NP_001269841.1:p.Pro297Arg
NM_001282912.3:c.890C>G (CARF)	NP_001269841.1:p.Pro297Arg
NM_001322427.2:c.1154C>G (CARF)	NP_001309356.1:p.Pro385Arg
NM_001322427.3:c.1154C>G (CARF)	NP_001309356.1:p.Pro385Arg
NM_001322428.2:c.1154C>G (CARF)	NP_001309357.1:p.Pro385Arg
NM_001322428.3:c.1154C>G (CARF)	NP_001309357.1:p.Pro385Arg
NM_001322429.2:c.1118C>G (CARF)	NP_001309358.1:p.Pro373Arg
NM_001322429.3:c.1118C>G (CARF)	NP_001309358.1:p.Pro373Arg
NM_001352676.1:c.596C>G (CARF)	NP_001339605.1:p.Pro199Arg
NM_001352676.2:c.596C>G (CARF)	NP_001339605.1:p.Pro199Arg
NM_001352677.1:c.848C>G (CARF)	NP_001339606.1:p.Pro283Arg
NM_001352677.2:c.848C>G (CARF)	NP_001339606.1:p.Pro283Arg
NM_001352678.1:c.122C>G (CARF)	NP_001339607.1:p.Pro41Arg
NM_001352678.2:c.122C>G (CARF)	NP_001339607.1:p.Pro41Arg
NM_001352679.1:c.122C>G (CARF)	NP_001339608.1:p.Pro41Arg
NM_001352679.2:c.122C>G (CARF)	NP_001339608.1:p.Pro41Arg
NM_024744.15:c.1154C>G (CARF)	NP_079020.13:p.Pro385Arg
NM_024744.16:c.1154C>G (CARF)	NP_079020.13:p.Pro385Arg
NR_136330.2:n.1350C>G (CARF)
NR_136330.3:n.1293C>G (CARF)
NR_136331.2:n.1281C>G (CARF)
NR_136331.3:n.1224C>G (CARF)
NR_148033.1:n.1471C>G (CARF)
NR_148033.2:n.1414C>G (CARF)
NR_148034.1:n.1099C>G (CARF)
NR_148034.2:n.1042C>G (CARF)
ENST00000320443.12:c.926C>G (CARF)	ENSP00000316224.9:p.Pro309Arg
ENST00000402905.7:c.1154C>G (CARF)	ENSP00000384006.2:p.Pro385Arg
ENST00000414439.5:c.848C>G (CARF)	ENSP00000416160.1:p.Pro283Arg
ENST00000422368.5:c.1064C>G (CARF)	ENSP00000392274.1:p.Pro355Arg
ENST00000428585.5:c.926C>G (CARF)	ENSP00000396221.1:p.Pro309Arg
ENST00000438828.3:c.1154C>G (CARF)	ENSP00000414644.1:p.Pro385Arg
ENST00000457031.5:c.*304C>G (CARF)	ENSP00000414789.1:n.*304C>G
ENST00000477723.1:n.242+42996G>C (WDR12)
XM_005246858.2:c.1154C>G (CARF)	XP_005246915.1:p.Pro385Arg
XM_005246858.3:c.1154C>G (CARF)	XP_005246915.1:p.Pro385Arg
XM_005246859.2:c.1154C>G (CARF)	XP_005246916.1:p.Pro385Arg
XM_005246859.3:c.1154C>G (CARF)	XP_005246916.1:p.Pro385Arg
XM_005246860.3:c.1064C>G (CARF)	XP_005246917.1:p.Pro355Arg
XM_005246863.2:c.1154C>G (CARF)	XP_005246920.1:p.Pro385Arg
XM_005246864.2:c.305C>G (CARF)	XP_005246921.1:p.Pro102Arg
XM_006712757.2:c.1154C>G (CARF)	XP_006712820.1:p.Pro385Arg
XM_006712759.2:c.1154C>G (CARF)	XP_006712822.1:p.Pro385Arg
XM_006712760.2:c.*84C>G (CARF)	XP_006712823.1:n.*84C>G
XM_006712760.3:c.*84C>G (CARF)	XP_006712823.1:n.*84C>G
XM_011511867.1:c.1154C>G (CARF)	XP_011510169.1:p.Pro385Arg
XM_011511867.2:c.1154C>G (CARF)	XP_011510169.1:p.Pro385Arg
XM_011511868.1:c.1154C>G (CARF)	XP_011510170.1:p.Pro385Arg
XM_011511868.3:c.1154C>G (CARF)	XP_011510170.1:p.Pro385Arg
XM_011511869.1:c.305C>G (CARF)	XP_011510171.1:p.Pro102Arg
XM_011511869.3:c.305C>G (CARF)	XP_011510171.1:p.Pro102Arg
XM_017004962.1:c.1064C>G (CARF)	XP_016860451.1:p.Pro355Arg
XM_017004963.2:c.890C>G (CARF)	XP_016860452.1:p.Pro297Arg
XM_017004964.1:c.848C>G (CARF)	XP_016860453.1:p.Pro283Arg
XM_017004965.2:c.848C>G (CARF)	XP_016860454.1:p.Pro283Arg
XM_017004966.1:c.848C>G (CARF)	XP_016860455.1:p.Pro283Arg
XM_024453150.1:c.305C>G (CARF)	XP_024308918.1:p.Pro102Arg
XM_024453151.1:c.122C>G (CARF)	XP_024308919.1:p.Pro41Arg
XR_001738946.2:n.1410C>G (CARF)
XR_001738947.2:n.1410C>G (CARF)
XR_001738948.1:n.1291C>G (CARF)