Canonical Allele Identifier: CA1389905

Gene: CENPF

Linked Data

• dbSNP Id: rs769641770
• ExAC: 1:214795593 C / T
• gnomAD v2: 1-214795593-C-T
• gnomAD v4: 1-214622250-C-T
• MyVariant Identifiers: chr1:g.214795593C>T (hg19) ; chr1:g.214622250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214622250C>T , CM000663.2:g.214622250C>T	GRCh38
NC_000001.10:g.214795593C>T , CM000663.1:g.214795593C>T	GRCh37
NC_000001.9:g.212862216C>T	NCBI36
NG_046787.1:g.24072C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706764.1:n.1215C>T
ENST00000706765.1:c.1037C>T	ENSP00000516538.1:p.Thr346Ile
ENST00000366955.8:c.1037C>T MANE Select	ENSP00000355922.3:p.Thr346Ile
ENST00000366955.7:c.1037C>T	ENSP00000355922.3:p.Thr346Ile
NM_016343.3:c.1037C>T	NP_057427.3:p.Thr346Ile
XM_011509082.1:c.1037C>T	XP_011507384.1:p.Thr346Ile
XM_011509082.3:c.1037C>T	XP_011507384.1:p.Thr346Ile
XM_017000086.2:c.1037C>T	XP_016855575.1:p.Thr346Ile
NM_016343.4:c.1037C>T MANE Select	NP_057427.3:p.Thr346Ile