Canonical Allele Identifier: CA10618060

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 344239
• ClinVar RCV Id: RCV000407767
• dbSNP Id: rs190149639
• gnomAD v2: 3-180332066-G-A
• gnomAD v3: 3-180614278-G-A
• gnomAD v4: 3-180614278-G-A
• MyVariant Identifiers: chr3:g.180332066G>A (hg19) ; chr3:g.180614278G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180614278G>A , CM000665.2:g.180614278G>A	GRCh38
NC_000003.11:g.180332066G>A , CM000665.1:g.180332066G>A	GRCh37
NC_000003.10:g.181814760G>A	NCBI36
NG_029581.1:g.70218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.*643C>T (CCDC39) MANE Select	ENSP00000417960.2:n.*643C>T
ENST00000489868.6:c.186-414C>T (CCDC39)	ENSP00000420025.1:n.186-414C>T
ENST00000651046.1:c.*643C>T (CCDC39)	ENSP00000499175.1:n.*643C>T
ENST00000651922.1:n.2794C>T (CCDC39)
ENST00000652010.1:n.3545C>T (CCDC39)
ENST00000382584.8:c.1775-3102G>A (TTC14)	ENSP00000372027.4:n.1775-3102G>A
ENST00000473854.5:c.303-414C>T
ENST00000476379.5:c.*1293C>T	ENSP00000417960.1:n.*1293C>T
ENST00000489868.5:c.186-414C>T	ENSP00000420025.1:n.186-414C>T
NM_001288582.1:c.1775-3102G>A (TTC14)	NP_001275511.1:n.1775-3102G>A
NM_181426.1:c.*643C>T (CCDC39)	NP_852091.1:n.*643C>T
NM_181426.2:c.*643C>T (CCDC39) MANE Select	NP_852091.1:n.*643C>T
NM_001288582.2:c.1775-3102G>A (TTC14)	NP_001275511.1:n.1775-3102G>A