Canonical Allele Identifier: CA1391492

Gene: CENPF

Linked Data

• dbSNP Id: rs375747320
• ExAC: 1:214830558 C / T
• gnomAD v3: 1-214657215-C-T
• gnomAD v4: 1-214657215-C-T
• MyVariant Identifiers: chr1:g.214830558C>T (hg19) ; chr1:g.214657215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214657215C>T , CM000663.2:g.214657215C>T	GRCh38
NC_000001.10:g.214830558C>T , CM000663.1:g.214830558C>T	GRCh37
NC_000001.9:g.212897181C>T	NCBI36
NG_046787.1:g.59037C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706765.1:c.8591C>T	ENSP00000516538.1:p.Ser2864Phe
ENST00000706766.1:n.867C>T
ENST00000366955.8:c.8768C>T MANE Select	ENSP00000355922.3:p.Ser2923Phe
ENST00000366955.7:c.8768C>T	ENSP00000355922.3:p.Ser2923Phe
ENST00000469862.1:n.539C>T
NM_016343.3:c.8768C>T	NP_057427.3:p.Ser2923Phe
XM_011509082.1:c.8591C>T	XP_011507384.1:p.Ser2864Phe
XM_011509083.1:c.7703C>T	XP_011507385.1:p.Ser2568Phe
XM_011509082.3:c.8591C>T	XP_011507384.1:p.Ser2864Phe
XM_017000086.2:c.8768C>T	XP_016855575.1:p.Ser2923Phe
NM_016343.4:c.8768C>T MANE Select	NP_057427.3:p.Ser2923Phe