Canonical Allele Identifier: CA10615332
Gene: CCDC39 HGNC NCBI
TTC14 HGNC NCBI

Linked Data

ClinVar Variation Id: 344237
ClinVar RCV Id: RCV000278659
dbSNP Id: rs540779727

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180614168C>T , CM000665.2:g.180614168C>T GRCh38
NC_000003.11:g.180331956C>T , CM000665.1:g.180331956C>T GRCh37
NC_000003.10:g.181814650C>T NCBI36
NG_029581.1:g.70328G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.*753G>A (CCDC39) MANE Select ENSP00000417960.2:n.*753G>A
ENST00000489868.6:c.186-304G>A (CCDC39) ENSP00000420025.1:n.186-304G>A
ENST00000651046.1:c.*753G>A (CCDC39) ENSP00000499175.1:n.*753G>A
ENST00000652010.1:n.3655G>A (CCDC39)
ENST00000382584.8:c.1775-3212C>T (TTC14) ENSP00000372027.4:n.1775-3212C>T
ENST00000473854.5:c.303-304G>A
ENST00000476379.5:c.*1403G>A ENSP00000417960.1:n.*1403G>A
ENST00000489868.5:c.186-304G>A ENSP00000420025.1:n.186-304G>A
NM_001288582.1:c.1775-3212C>T (TTC14) NP_001275511.1:n.1775-3212C>T
NM_181426.1:c.*753G>A (CCDC39) NP_852091.1:n.*753G>A
NM_181426.2:c.*753G>A (CCDC39) MANE Select NP_852091.1:n.*753G>A
NM_001288582.2:c.1775-3212C>T (TTC14) NP_001275511.1:n.1775-3212C>T