Canonical Allele Identifier: CA2715643

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 228476
• ClinVar RCV Id: RCV000219574 ; RCV001853433 ; RCV000404918
• dbSNP Id: rs201097154
• ExAC: 3:180334333 G / A
• gnomAD v2: 3-180334333-G-A
• gnomAD v3: 3-180616545-G-A
• gnomAD v4: 3-180616545-G-A
• COSMIC: COSM1041649
• MyVariant Identifiers: chr3:g.180334333G>A (hg19) ; chr3:g.180616545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180616545G>A , CM000665.2:g.180616545G>A	GRCh38
NC_000003.11:g.180334333G>A , CM000665.1:g.180334333G>A	GRCh37
NC_000003.10:g.181817027G>A	NCBI36
NG_029581.1:g.67951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.2557C>T (CCDC39) MANE Select	ENSP00000417960.2:p.Arg853Cys
ENST00000489868.6:c.73C>T (CCDC39)	ENSP00000420025.1:p.Arg25Cys
ENST00000651046.1:c.2365C>T (CCDC39)	ENSP00000499175.1:p.Arg789Cys
ENST00000651922.1:n.1882C>T (CCDC39)
ENST00000652010.1:n.2633C>T (CCDC39)
ENST00000382584.8:c.1775-835G>A (TTC14)	ENSP00000372027.4:n.1775-835G>A
ENST00000442201.6:c.2557C>T	ENSP00000405708.2:p.Arg853Cys
ENST00000473854.5:c.108C>T
ENST00000476379.5:c.*381C>T	ENSP00000417960.1:n.*381C>T
ENST00000489868.5:c.73C>T	ENSP00000420025.1:p.Arg25Cys
NM_001288582.1:c.1775-835G>A (TTC14)	NP_001275511.1:n.1775-835G>A
NM_181426.1:c.2557C>T (CCDC39)	NP_852091.1:p.Arg853Cys
NM_181426.2:c.2557C>T (CCDC39) MANE Select	NP_852091.1:p.Arg853Cys
NM_001288582.2:c.1775-835G>A (TTC14)	NP_001275511.1:n.1775-835G>A