Canonical Allele Identifier: CA355305143

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 455020
• ClinVar RCV Id: RCV000558884
• dbSNP Id: rs1553800956
• MyVariant Identifiers: chr3:g.180334339C>A (hg19) ; chr3:g.180616551C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180616551C>A , CM000665.2:g.180616551C>A	GRCh38
NC_000003.11:g.180334339C>A , CM000665.1:g.180334339C>A	GRCh37
NC_000003.10:g.181817033C>A	NCBI36
NG_029581.1:g.67945G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.2551G>T (CCDC39) MANE Select	ENSP00000417960.2:p.Glu851Ter
ENST00000489868.6:c.67G>T (CCDC39)	ENSP00000420025.1:p.Glu23Ter
ENST00000651046.1:c.2359G>T (CCDC39)	ENSP00000499175.1:p.Glu787Ter
ENST00000651922.1:n.1876G>T (CCDC39)
ENST00000652010.1:n.2627G>T (CCDC39)
ENST00000382584.8:c.1775-829C>A (TTC14)	ENSP00000372027.4:n.1775-829C>A
ENST00000442201.6:c.2551G>T	ENSP00000405708.2:p.Glu851Ter
ENST00000473854.5:c.102G>T
ENST00000476379.5:c.*375G>T	ENSP00000417960.1:n.*375G>T
ENST00000489868.5:c.67G>T	ENSP00000420025.1:p.Glu23Ter
NM_001288582.1:c.1775-829C>A (TTC14)	NP_001275511.1:n.1775-829C>A
NM_181426.1:c.2551G>T (CCDC39)	NP_852091.1:p.Glu851Ter
NM_181426.2:c.2551G>T (CCDC39) MANE Select	NP_852091.1:p.Glu851Ter
NM_001288582.2:c.1775-829C>A (TTC14)	NP_001275511.1:n.1775-829C>A