Canonical Allele Identifier: CA1391470

Gene: CENPF

Linked Data

• dbSNP Id: rs777921126
• ExAC: 1:214830462 A / T
• gnomAD v2: 1-214830462-A-T
• MyVariant Identifiers: chr1:g.214830462A>T (hg19) ; chr1:g.214657119A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214657119A>T , CM000663.2:g.214657119A>T	GRCh38
NC_000001.10:g.214830462A>T , CM000663.1:g.214830462A>T	GRCh37
NC_000001.9:g.212897085A>T	NCBI36
NG_046787.1:g.58941A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706765.1:c.8495A>T	ENSP00000516538.1:p.Gln2832Leu
ENST00000706766.1:n.771A>T
ENST00000366955.8:c.8672A>T MANE Select	ENSP00000355922.3:p.Gln2891Leu
ENST00000366955.7:c.8672A>T	ENSP00000355922.3:p.Gln2891Leu
ENST00000469862.1:n.443A>T
NM_016343.3:c.8672A>T	NP_057427.3:p.Gln2891Leu
XM_011509082.1:c.8495A>T	XP_011507384.1:p.Gln2832Leu
XM_011509083.1:c.7607A>T	XP_011507385.1:p.Gln2536Leu
XM_011509082.3:c.8495A>T	XP_011507384.1:p.Gln2832Leu
XM_017000086.2:c.8672A>T	XP_016855575.1:p.Gln2891Leu
NM_016343.4:c.8672A>T MANE Select	NP_057427.3:p.Gln2891Leu