Canonical Allele Identifier: CA339968280

Gene: CFAP57 EBNA1BP2

Linked Data

• gnomAD v4: 1-43206802-C-T
• MyVariant Identifiers: chr1:g.43672473C>T (hg19) ; chr1:g.43206802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43206802C>T , CM000663.2:g.43206802C>T	GRCh38
NC_000001.10:g.43672473C>T , CM000663.1:g.43672473C>T	GRCh37
NC_000001.9:g.43445060C>T	NCBI36
NG_028079.1:g.39473C>T
NG_028079.2:g.39473C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372492.9:c.1625C>T (CFAP57) MANE Select	ENSP00000361570.4:p.Ser542Phe
ENST00000372492.8:c.1625C>T (CFAP57)	ENSP00000361570.4:p.Ser542Phe
ENST00000461557.2:n.233+4648G>A (EBNA1BP2)
ENST00000466927.5:n.197+8464G>A (EBNA1BP2)
ENST00000474566.1:n.420-410G>A (EBNA1BP2)
ENST00000528956.5:c.1625C>T (CFAP57)	ENSP00000435310.1:p.Ser542Phe
ENST00000533339.1:c.*1524C>T (CFAP57)	ENSP00000432547.1:n.*1524C>T
ENST00000610710.4:c.1625C>T (CFAP57)	ENSP00000479773.1:p.Ser542Phe
NM_001167965.1:c.1625C>T (CFAP57)	NP_001161437.1:p.Ser542Phe
NM_001195831.2:c.1625C>T (CFAP57)	NP_001182760.2:p.Ser542Phe
NM_152498.3:c.1625C>T (CFAP57)	NP_689711.2:p.Ser542Phe
XM_005270520.1:c.1625C>T (CFAP57)	XP_005270577.1:p.Ser542Phe
XM_006710383.1:c.1592C>T (CFAP57)	XP_006710446.1:p.Ser531Phe
XM_011540793.1:c.1625C>T (CFAP57)	XP_011539095.1:p.Ser542Phe
XM_011540794.1:c.1625C>T (CFAP57)	XP_011539096.1:p.Ser542Phe
XM_011540795.1:c.1625C>T (CFAP57)	XP_011539097.1:p.Ser542Phe
XM_011540796.1:c.1592C>T (CFAP57)	XP_011539098.1:p.Ser531Phe
XM_011540797.1:c.1562C>T (CFAP57)	XP_011539099.1:p.Ser521Phe
XM_011540798.1:c.1543-2941C>T (CFAP57)	XP_011539100.1:n.1543-2941C>T
XM_011540799.1:c.1542+7299C>T (CFAP57)	XP_011539101.1:n.1542+7299C>T
XM_011540800.1:c.1625C>T (CFAP57)	XP_011539102.1:p.Ser542Phe
XM_011540801.1:c.1625C>T (CFAP57)	XP_011539103.1:p.Ser542Phe
XR_947266.1:n.450-410G>A
XR_947267.1:n.455-410G>A
XR_947268.1:n.240-410G>A
XR_947269.1:n.1064-410G>A
XR_947270.1:n.214-410G>A
XR_947271.1:n.885-410G>A
XR_947273.1:n.448+8464G>A
XR_947274.1:n.453-410G>A
XM_005270520.2:c.1625C>T (CFAP57)	XP_005270577.1:p.Ser542Phe
XM_011540795.3:c.1625C>T (CFAP57)	XP_011539097.1:p.Ser542Phe
XM_011540797.2:c.1562C>T (CFAP57)	XP_011539099.1:p.Ser521Phe
XM_011540800.2:c.1625C>T (CFAP57)	XP_011539102.1:p.Ser542Phe
XM_017000421.1:c.1625C>T (CFAP57)	XP_016855910.1:p.Ser542Phe
XM_017000422.2:c.1625C>T (CFAP57)	XP_016855911.1:p.Ser542Phe
XR_001736994.2:n.1754C>T (CFAP57)
XR_001738021.1:n.532-410G>A
XR_001738022.1:n.529-410G>A
XR_001738023.2:n.827-410G>A
XR_001738024.1:n.539+8464G>A
XR_947266.2:n.521-410G>A
XR_947268.2:n.247-410G>A
XR_947271.2:n.888-410G>A
XR_947273.2:n.538+8464G>A
XR_947274.2:n.827-410G>A
NM_001195831.3:c.1625C>T (CFAP57)	NP_001182760.2:p.Ser542Phe
NM_001378189.1:c.1625C>T (CFAP57) MANE Select	NP_001365118.1:p.Ser542Phe