Canonical Allele Identifier: CA350150

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 219954
• ClinVar RCV Id: RCV000206081 ; RCV000244505 ; RCV001094885 ; RCV003430763
• dbSNP Id: rs200913298
• ExAC: 3:180334721 A / G
• gnomAD v2: 3-180334721-A-G
• gnomAD v3: 3-180616933-A-G
• gnomAD v4: 3-180616933-A-G
• MyVariant Identifiers: chr3:g.180334721A>G (hg19) ; chr3:g.180616933A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180616933A>G , CM000665.2:g.180616933A>G	GRCh38
NC_000003.11:g.180334721A>G , CM000665.1:g.180334721A>G	GRCh37
NC_000003.10:g.181817415A>G	NCBI36
NG_029581.1:g.67563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.2299T>C (CCDC39) MANE Select	ENSP00000417960.2:p.Leu767=
ENST00000651046.1:c.2107T>C (CCDC39)	ENSP00000499175.1:p.Leu703=
ENST00000651922.1:n.1624T>C (CCDC39)
ENST00000652010.1:n.2375T>C (CCDC39)
ENST00000382584.8:c.1775-447A>G (TTC14)	ENSP00000372027.4:n.1775-447A>G
ENST00000442201.6:c.2299T>C	ENSP00000405708.2:p.Leu767=
ENST00000476379.5:c.*123T>C	ENSP00000417960.1:n.*123T>C
NM_001288582.1:c.1775-447A>G (TTC14)	NP_001275511.1:n.1775-447A>G
NM_181426.1:c.2299T>C (CCDC39)	NP_852091.1:p.Leu767=
NM_181426.2:c.2299T>C (CCDC39) MANE Select	NP_852091.1:p.Leu767=
NM_001288582.2:c.1775-447A>G (TTC14)	NP_001275511.1:n.1775-447A>G