Canonical Allele Identifier: CA1391473

Gene: CENPF

Linked Data

• dbSNP Id: rs776430439
• ExAC: 1:214830466 A / G
• gnomAD v2: 1-214830466-A-G
• gnomAD v3: 1-214657123-A-G
• gnomAD v4: 1-214657123-A-G
• MyVariant Identifiers: chr1:g.214830466A>G (hg19) ; chr1:g.214657123A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.214657123A>G , CM000663.2:g.214657123A>G	GRCh38
NC_000001.10:g.214830466A>G , CM000663.1:g.214830466A>G	GRCh37
NC_000001.9:g.212897089A>G	NCBI36
NG_046787.1:g.58945A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706765.1:c.8499A>G	ENSP00000516538.1:p.Gln2833=
ENST00000706766.1:n.775A>G
ENST00000366955.8:c.8676A>G MANE Select	ENSP00000355922.3:p.Gln2892=
ENST00000366955.7:c.8676A>G	ENSP00000355922.3:p.Gln2892=
ENST00000469862.1:n.447A>G
NM_016343.3:c.8676A>G	NP_057427.3:p.Gln2892=
XM_011509082.1:c.8499A>G	XP_011507384.1:p.Gln2833=
XM_011509083.1:c.7611A>G	XP_011507385.1:p.Gln2537=
XM_011509082.3:c.8499A>G	XP_011507384.1:p.Gln2833=
XM_017000086.2:c.8676A>G	XP_016855575.1:p.Gln2892=
NM_016343.4:c.8676A>G MANE Select	NP_057427.3:p.Gln2892=