Canonical Allele Identifier: CA344857789

Gene: CENPF

Linked Data

• gnomAD v4: 1-214657388-C-G
• MyVariant Identifiers: chr1:g.214830731C>G (hg19) ; chr1:g.214657388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214657388C>G , CM000663.2:g.214657388C>G	GRCh38
NC_000001.10:g.214830731C>G , CM000663.1:g.214830731C>G	GRCh37
NC_000001.9:g.212897354C>G	NCBI36
NG_046787.1:g.59210C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706765.1:c.8764C>G	ENSP00000516538.1:p.Leu2922Val
ENST00000706766.1:n.1040C>G
ENST00000366955.8:c.8941C>G MANE Select	ENSP00000355922.3:p.Leu2981Val
ENST00000366955.7:c.8941C>G	ENSP00000355922.3:p.Leu2981Val
ENST00000469862.1:n.712C>G
NM_016343.3:c.8941C>G	NP_057427.3:p.Leu2981Val
XM_011509082.1:c.8764C>G	XP_011507384.1:p.Leu2922Val
XM_011509083.1:c.7876C>G	XP_011507385.1:p.Leu2626Val
XM_011509082.3:c.8764C>G	XP_011507384.1:p.Leu2922Val
XM_017000086.2:c.8941C>G	XP_016855575.1:p.Leu2981Val
NM_016343.4:c.8941C>G MANE Select	NP_057427.3:p.Leu2981Val