Canonical Allele Identifier: CA804713

Gene: CFAP57 EBNA1BP2

Linked Data

• dbSNP Id: rs752212344
• ExAC: 1:43672474 C / T
• gnomAD v2: 1-43672474-C-T
• MyVariant Identifiers: chr1:g.43672474C>T (hg19) ; chr1:g.43206803C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43206803C>T , CM000663.2:g.43206803C>T	GRCh38
NC_000001.10:g.43672474C>T , CM000663.1:g.43672474C>T	GRCh37
NC_000001.9:g.43445061C>T	NCBI36
NG_028079.1:g.39474C>T
NG_028079.2:g.39474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372492.9:c.1626C>T (CFAP57) MANE Select	ENSP00000361570.4:p.Ser542=
ENST00000372492.8:c.1626C>T (CFAP57)	ENSP00000361570.4:p.Ser542=
ENST00000461557.2:n.233+4647G>A (EBNA1BP2)
ENST00000466927.5:n.197+8463G>A (EBNA1BP2)
ENST00000474566.1:n.420-411G>A (EBNA1BP2)
ENST00000528956.5:c.1626C>T (CFAP57)	ENSP00000435310.1:p.Ser542=
ENST00000533339.1:c.*1525C>T (CFAP57)	ENSP00000432547.1:n.*1525C>T
ENST00000610710.4:c.1626C>T (CFAP57)	ENSP00000479773.1:p.Ser542=
NM_001167965.1:c.1626C>T (CFAP57)	NP_001161437.1:p.Ser542=
NM_001195831.2:c.1626C>T (CFAP57)	NP_001182760.2:p.Ser542=
NM_152498.3:c.1626C>T (CFAP57)	NP_689711.2:p.Ser542=
XM_005270520.1:c.1626C>T (CFAP57)	XP_005270577.1:p.Ser542=
XM_006710383.1:c.1593C>T (CFAP57)	XP_006710446.1:p.Ser531=
XM_011540793.1:c.1626C>T (CFAP57)	XP_011539095.1:p.Ser542=
XM_011540794.1:c.1626C>T (CFAP57)	XP_011539096.1:p.Ser542=
XM_011540795.1:c.1626C>T (CFAP57)	XP_011539097.1:p.Ser542=
XM_011540796.1:c.1593C>T (CFAP57)	XP_011539098.1:p.Ser531=
XM_011540797.1:c.1563C>T (CFAP57)	XP_011539099.1:p.Ser521=
XM_011540798.1:c.1543-2940C>T (CFAP57)	XP_011539100.1:n.1543-2940C>T
XM_011540799.1:c.1542+7300C>T (CFAP57)	XP_011539101.1:n.1542+7300C>T
XM_011540800.1:c.1626C>T (CFAP57)	XP_011539102.1:p.Ser542=
XM_011540801.1:c.1626C>T (CFAP57)	XP_011539103.1:p.Ser542=
XR_947266.1:n.450-411G>A
XR_947267.1:n.455-411G>A
XR_947268.1:n.240-411G>A
XR_947269.1:n.1064-411G>A
XR_947270.1:n.214-411G>A
XR_947271.1:n.885-411G>A
XR_947273.1:n.448+8463G>A
XR_947274.1:n.453-411G>A
XM_005270520.2:c.1626C>T (CFAP57)	XP_005270577.1:p.Ser542=
XM_011540795.3:c.1626C>T (CFAP57)	XP_011539097.1:p.Ser542=
XM_011540797.2:c.1563C>T (CFAP57)	XP_011539099.1:p.Ser521=
XM_011540800.2:c.1626C>T (CFAP57)	XP_011539102.1:p.Ser542=
XM_017000421.1:c.1626C>T (CFAP57)	XP_016855910.1:p.Ser542=
XM_017000422.2:c.1626C>T (CFAP57)	XP_016855911.1:p.Ser542=
XR_001736994.2:n.1755C>T (CFAP57)
XR_001738021.1:n.532-411G>A
XR_001738022.1:n.529-411G>A
XR_001738023.2:n.827-411G>A
XR_001738024.1:n.539+8463G>A
XR_947266.2:n.521-411G>A
XR_947268.2:n.247-411G>A
XR_947271.2:n.888-411G>A
XR_947273.2:n.538+8463G>A
XR_947274.2:n.827-411G>A
NM_001195831.3:c.1626C>T (CFAP57)	NP_001182760.2:p.Ser542=
NM_001378189.1:c.1626C>T (CFAP57) MANE Select	NP_001365118.1:p.Ser542=