Canonical Allele Identifier: CA1391490

Gene: CENPF

Linked Data

• dbSNP Id: rs757528548
• ExAC: 1:214830553 A / C
• gnomAD v2: 1-214830553-A-C
• gnomAD v3: 1-214657210-A-C
• gnomAD v4: 1-214657210-A-C
• MyVariant Identifiers: chr1:g.214830553A>C (hg19) ; chr1:g.214657210A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214657210A>C , CM000663.2:g.214657210A>C	GRCh38
NC_000001.10:g.214830553A>C , CM000663.1:g.214830553A>C	GRCh37
NC_000001.9:g.212897176A>C	NCBI36
NG_046787.1:g.59032A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706765.1:c.8586A>C	ENSP00000516538.1:p.Leu2862Phe
ENST00000706766.1:n.862A>C
ENST00000366955.8:c.8763A>C MANE Select	ENSP00000355922.3:p.Leu2921Phe
ENST00000366955.7:c.8763A>C	ENSP00000355922.3:p.Leu2921Phe
ENST00000469862.1:n.534A>C
NM_016343.3:c.8763A>C	NP_057427.3:p.Leu2921Phe
XM_011509082.1:c.8586A>C	XP_011507384.1:p.Leu2862Phe
XM_011509083.1:c.7698A>C	XP_011507385.1:p.Leu2566Phe
XM_011509082.3:c.8586A>C	XP_011507384.1:p.Leu2862Phe
XM_017000086.2:c.8763A>C	XP_016855575.1:p.Leu2921Phe
NM_016343.4:c.8763A>C MANE Select	NP_057427.3:p.Leu2921Phe