Canonical Allele Identifier: CA349495

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 219718
• ClinVar RCV Id: RCV000205337 ; RCV002485338 ; RCV003430762
• dbSNP Id: rs201963508
• ExAC: 3:180334342 T / C
• gnomAD v2: 3-180334342-T-C
• gnomAD v3: 3-180616554-T-C
• gnomAD v4: 3-180616554-T-C
• COSMIC: COSM1041650
• MyVariant Identifiers: chr3:g.180334342T>C (hg19) ; chr3:g.180616554T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180616554T>C , CM000665.2:g.180616554T>C	GRCh38
NC_000003.11:g.180334342T>C , CM000665.1:g.180334342T>C	GRCh37
NC_000003.10:g.181817036T>C	NCBI36
NG_029581.1:g.67942A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.2548A>G (CCDC39) MANE Select	ENSP00000417960.2:p.Thr850Ala
ENST00000489868.6:c.64A>G (CCDC39)	ENSP00000420025.1:p.Thr22Ala
ENST00000651046.1:c.2356A>G (CCDC39)	ENSP00000499175.1:p.Thr786Ala
ENST00000651922.1:n.1873A>G (CCDC39)
ENST00000652010.1:n.2624A>G (CCDC39)
ENST00000382584.8:c.1775-826T>C (TTC14)	ENSP00000372027.4:n.1775-826T>C
ENST00000442201.6:c.2548A>G	ENSP00000405708.2:p.Thr850Ala
ENST00000473854.5:c.99A>G
ENST00000476379.5:c.*372A>G	ENSP00000417960.1:n.*372A>G
ENST00000489868.5:c.64A>G	ENSP00000420025.1:p.Thr22Ala
NM_001288582.1:c.1775-826T>C (TTC14)	NP_001275511.1:n.1775-826T>C
NM_181426.1:c.2548A>G (CCDC39)	NP_852091.1:p.Thr850Ala
NM_181426.2:c.2548A>G (CCDC39) MANE Select	NP_852091.1:p.Thr850Ala
NM_001288582.2:c.1775-826T>C (TTC14)	NP_001275511.1:n.1775-826T>C