Canonical Allele Identifier: CA2715642

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 455021
• ClinVar RCV Id: RCV001145559 ; RCV000537244
• dbSNP Id: rs147183244
• ExAC: 3:180334332 C / T
• gnomAD v2: 3-180334332-C-T
• gnomAD v3: 3-180616544-C-T
• gnomAD v4: 3-180616544-C-T
• COSMIC: COSM1421099
• MyVariant Identifiers: chr3:g.180334332C>T (hg19) ; chr3:g.180616544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180616544C>T , CM000665.2:g.180616544C>T	GRCh38
NC_000003.11:g.180334332C>T , CM000665.1:g.180334332C>T	GRCh37
NC_000003.10:g.181817026C>T	NCBI36
NG_029581.1:g.67952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.2558G>A (CCDC39) MANE Select	ENSP00000417960.2:p.Arg853His
ENST00000489868.6:c.74G>A (CCDC39)	ENSP00000420025.1:p.Arg25His
ENST00000651046.1:c.2366G>A (CCDC39)	ENSP00000499175.1:p.Arg789His
ENST00000651922.1:n.1883G>A (CCDC39)
ENST00000652010.1:n.2634G>A (CCDC39)
ENST00000382584.8:c.1775-836C>T (TTC14)	ENSP00000372027.4:n.1775-836C>T
ENST00000442201.6:c.2558G>A	ENSP00000405708.2:p.Arg853His
ENST00000473854.5:c.109G>A
ENST00000476379.5:c.*382G>A	ENSP00000417960.1:n.*382G>A
ENST00000489868.5:c.74G>A	ENSP00000420025.1:p.Arg25His
NM_001288582.1:c.1775-836C>T (TTC14)	NP_001275511.1:n.1775-836C>T
NM_181426.1:c.2558G>A (CCDC39)	NP_852091.1:p.Arg853His
NM_181426.2:c.2558G>A (CCDC39) MANE Select	NP_852091.1:p.Arg853His
NM_001288582.2:c.1775-836C>T (TTC14)	NP_001275511.1:n.1775-836C>T