Canonical Allele Identifier: CA1391522

Gene: CENPF

Linked Data

• dbSNP Id: rs763301128
• ExAC: 1:214830735 C / T
• gnomAD v2: 1-214830735-C-T
• gnomAD v3: 1-214657392-C-T
• gnomAD v4: 1-214657392-C-T
• COSMIC: COSM5917078
• MyVariant Identifiers: chr1:g.214830735C>T (hg19) ; chr1:g.214657392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214657392C>T , CM000663.2:g.214657392C>T	GRCh38
NC_000001.10:g.214830735C>T , CM000663.1:g.214830735C>T	GRCh37
NC_000001.9:g.212897358C>T	NCBI36
NG_046787.1:g.59214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706765.1:c.8768C>T	ENSP00000516538.1:p.Pro2923Leu
ENST00000706766.1:n.1044C>T
ENST00000366955.8:c.8945C>T MANE Select	ENSP00000355922.3:p.Pro2982Leu
ENST00000366955.7:c.8945C>T	ENSP00000355922.3:p.Pro2982Leu
ENST00000469862.1:n.716C>T
NM_016343.3:c.8945C>T	NP_057427.3:p.Pro2982Leu
XM_011509082.1:c.8768C>T	XP_011507384.1:p.Pro2923Leu
XM_011509083.1:c.7880C>T	XP_011507385.1:p.Pro2627Leu
XM_011509082.3:c.8768C>T	XP_011507384.1:p.Pro2923Leu
XM_017000086.2:c.8945C>T	XP_016855575.1:p.Pro2982Leu
NM_016343.4:c.8945C>T MANE Select	NP_057427.3:p.Pro2982Leu