Canonical Allele Identifier: CA1391523

Gene: CENPF

Linked Data

• dbSNP Id: rs764674563
• ExAC: 1:214830740 G / A
• gnomAD v2: 1-214830740-G-A
• gnomAD v4: 1-214657397-G-A
• MyVariant Identifiers: chr1:g.214830740G>A (hg19) ; chr1:g.214657397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214657397G>A , CM000663.2:g.214657397G>A	GRCh38
NC_000001.10:g.214830740G>A , CM000663.1:g.214830740G>A	GRCh37
NC_000001.9:g.212897363G>A	NCBI36
NG_046787.1:g.59219G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706765.1:c.8773G>A	ENSP00000516538.1:p.Val2925Ile
ENST00000706766.1:n.1049G>A
ENST00000366955.8:c.8950G>A MANE Select	ENSP00000355922.3:p.Val2984Ile
ENST00000366955.7:c.8950G>A	ENSP00000355922.3:p.Val2984Ile
ENST00000469862.1:n.721G>A
NM_016343.3:c.8950G>A	NP_057427.3:p.Val2984Ile
XM_011509082.1:c.8773G>A	XP_011507384.1:p.Val2925Ile
XM_011509083.1:c.7885G>A	XP_011507385.1:p.Val2629Ile
XM_011509082.3:c.8773G>A	XP_011507384.1:p.Val2925Ile
XM_017000086.2:c.8950G>A	XP_016855575.1:p.Val2984Ile
NM_016343.4:c.8950G>A MANE Select	NP_057427.3:p.Val2984Ile