Canonical Allele Identifier: CA1389898

Gene: CENPF

Linked Data

• dbSNP Id: rs370955098
• ExAC: 1:214795544 A / G
• gnomAD v2: 1-214795544-A-G
• gnomAD v4: 1-214622201-A-G
• MyVariant Identifiers: chr1:g.214795544A>G (hg19) ; chr1:g.214622201A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214622201A>G , CM000663.2:g.214622201A>G	GRCh38
NC_000001.10:g.214795544A>G , CM000663.1:g.214795544A>G	GRCh37
NC_000001.9:g.212862167A>G	NCBI36
NG_046787.1:g.24023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706764.1:n.1166A>G
ENST00000706765.1:c.988A>G	ENSP00000516538.1:p.Ile330Val
ENST00000366955.8:c.988A>G MANE Select	ENSP00000355922.3:p.Ile330Val
ENST00000366955.7:c.988A>G	ENSP00000355922.3:p.Ile330Val
NM_016343.3:c.988A>G	NP_057427.3:p.Ile330Val
XM_011509082.1:c.988A>G	XP_011507384.1:p.Ile330Val
XM_011509082.3:c.988A>G	XP_011507384.1:p.Ile330Val
XM_017000086.2:c.988A>G	XP_016855575.1:p.Ile330Val
NM_016343.4:c.988A>G MANE Select	NP_057427.3:p.Ile330Val