Canonical Allele Identifier: CA2715667

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 525460
• ClinVar RCV Id: RCV000629523 ; RCV001145677 ; RCV003945579
• dbSNP Id: rs201601768
• ExAC: 3:180334481 A / G
• gnomAD v2: 3-180334481-A-G
• gnomAD v3: 3-180616693-A-G
• gnomAD v4: 3-180616693-A-G
• MyVariant Identifiers: chr3:g.180334481A>G (hg19) ; chr3:g.180616693A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180616693A>G , CM000665.2:g.180616693A>G	GRCh38
NC_000003.11:g.180334481A>G , CM000665.1:g.180334481A>G	GRCh37
NC_000003.10:g.181817175A>G	NCBI36
NG_029581.1:g.67803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.2409T>C (CCDC39) MANE Select	ENSP00000417960.2:p.Cys803=
ENST00000651046.1:c.2217T>C (CCDC39)	ENSP00000499175.1:p.Cys739=
ENST00000651922.1:n.1734T>C (CCDC39)
ENST00000652010.1:n.2485T>C (CCDC39)
ENST00000382584.8:c.1775-687A>G (TTC14)	ENSP00000372027.4:n.1775-687A>G
ENST00000442201.6:c.2409T>C	ENSP00000405708.2:p.Cys803=
ENST00000476379.5:c.*233T>C	ENSP00000417960.1:n.*233T>C
NM_001288582.1:c.1775-687A>G (TTC14)	NP_001275511.1:n.1775-687A>G
NM_181426.1:c.2409T>C (CCDC39)	NP_852091.1:p.Cys803=
NM_181426.2:c.2409T>C (CCDC39) MANE Select	NP_852091.1:p.Cys803=
NM_001288582.2:c.1775-687A>G (TTC14)	NP_001275511.1:n.1775-687A>G