Canonical Allele Identifier: CA344833070

Gene: CENPF

Linked Data

• dbSNP Id: rs1470027748
• gnomAD v3: 1-214622183-A-G
• gnomAD v4: 1-214622183-A-G
• MyVariant Identifiers: chr1:g.214795526A>G (hg19) ; chr1:g.214622183A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214622183A>G , CM000663.2:g.214622183A>G	GRCh38
NC_000001.10:g.214795526A>G , CM000663.1:g.214795526A>G	GRCh37
NC_000001.9:g.212862149A>G	NCBI36
NG_046787.1:g.24005A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706764.1:n.1148A>G
ENST00000706765.1:c.970A>G	ENSP00000516538.1:p.Lys324Glu
ENST00000366955.8:c.970A>G MANE Select	ENSP00000355922.3:p.Lys324Glu
ENST00000366955.7:c.970A>G	ENSP00000355922.3:p.Lys324Glu
NM_016343.3:c.970A>G	NP_057427.3:p.Lys324Glu
XM_011509082.1:c.970A>G	XP_011507384.1:p.Lys324Glu
XM_011509082.3:c.970A>G	XP_011507384.1:p.Lys324Glu
XM_017000086.2:c.970A>G	XP_016855575.1:p.Lys324Glu
NM_016343.4:c.970A>G MANE Select	NP_057427.3:p.Lys324Glu