Canonical Allele Identifier: CA2838205068
Gene: CFAP57 HGNC NCBI
EBNA1BP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.43232410G>T , CM000663.2:g.43232410G>T GRCh38
NC_000001.10:g.43698081G>T , CM000663.1:g.43698081G>T GRCh37
NC_000001.9:g.43470668G>T NCBI36
NG_028079.2:g.65081G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372492.9:c.3010-98G>T (CFAP57) MANE Select ENSP00000361570.4:n.3010-98G>T
ENST00000372492.8:c.3010-98G>T (CFAP57) ENSP00000361570.4:n.3010-98G>T
ENST00000461557.2:n.109-17017C>A (EBNA1BP2)
ENST00000466927.5:n.70-17017C>A (EBNA1BP2)
ENST00000474566.1:n.174-17017C>A (EBNA1BP2)
ENST00000610710.4:c.3109-98G>T (CFAP57) ENSP00000479773.1:n.3109-98G>T
NM_001195831.2:c.3109-98G>T (CFAP57) NP_001182760.2:n.3109-98G>T
XM_005270520.1:c.3010-98G>T (CFAP57) XP_005270577.1:n.3010-98G>T
XM_006710383.1:c.2977-98G>T (CFAP57) XP_006710446.1:n.2977-98G>T
XM_011540793.1:c.3010-98G>T (CFAP57) XP_011539095.1:n.3010-98G>T
XM_011540794.1:c.3010-98G>T (CFAP57) XP_011539096.1:n.3010-98G>T
XM_011540795.1:c.3010-98G>T (CFAP57) XP_011539097.1:n.3010-98G>T
XM_011540796.1:c.2977-98G>T (CFAP57) XP_011539098.1:n.2977-98G>T
XM_011540797.1:c.2947-98G>T (CFAP57) XP_011539099.1:n.2947-98G>T
XM_011540798.1:c.2797-98G>T (CFAP57) XP_011539100.1:n.2797-98G>T
XM_011540799.1:c.2623-98G>T (CFAP57) XP_011539101.1:n.2623-98G>T
XM_011540800.1:c.3010-98G>T (CFAP57) XP_011539102.1:n.3010-98G>T
XR_947266.1:n.322-17017C>A
XR_947267.1:n.327-17017C>A
XR_947268.1:n.111+15350C>A
XR_947269.1:n.935+2608C>A
XR_947270.1:n.85+2038C>A
XR_947272.1:n.320-17017C>A
XR_947273.1:n.321-17017C>A
XR_947274.1:n.325-17017C>A
XR_947275.1:n.322-17017C>A
XM_005270520.2:c.3010-98G>T (CFAP57) XP_005270577.1:n.3010-98G>T
XM_011540795.3:c.3010-98G>T (CFAP57) XP_011539097.1:n.3010-98G>T
XM_011540797.2:c.2947-98G>T (CFAP57) XP_011539099.1:n.2947-98G>T
XM_011540800.2:c.3010-98G>T (CFAP57) XP_011539102.1:n.3010-98G>T
XM_017000421.1:c.2836-98G>T (CFAP57) XP_016855910.1:n.2836-98G>T
XM_017000422.2:c.3109-98G>T (CFAP57) XP_016855911.1:n.3109-98G>T
XR_001738021.1:n.404-17017C>A
XR_001738022.1:n.401-17017C>A
XR_001738023.2:n.699-17017C>A
XR_001738024.1:n.412-17017C>A
XR_947266.2:n.393-17017C>A
XR_947268.2:n.118+15350C>A
XR_947272.2:n.408-17017C>A
XR_947273.2:n.411-17017C>A
XR_947274.2:n.699-17017C>A
XR_947275.2:n.411-17017C>A
NM_001195831.3:c.3109-98G>T (CFAP57) NP_001182760.2:n.3109-98G>T
NM_001378189.1:c.3010-98G>T (CFAP57) MANE Select NP_001365118.1:n.3010-98G>T