Canonical Allele Identifier: CA10615336

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 344241
• ClinVar RCV Id: RCV000349256
• dbSNP Id: rs141409397
• gnomAD v2: 3-180332163-T-G
• gnomAD v3: 3-180614375-T-G
• gnomAD v4: 3-180614375-T-G
• MyVariant Identifiers: chr3:g.180332163T>G (hg19) ; chr3:g.180614375T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180614375T>G , CM000665.2:g.180614375T>G	GRCh38
NC_000003.11:g.180332163T>G , CM000665.1:g.180332163T>G	GRCh37
NC_000003.10:g.181814857T>G	NCBI36
NG_029581.1:g.70121A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.*546A>C (CCDC39) MANE Select	ENSP00000417960.2:n.*546A>C
ENST00000489868.6:c.186-511A>C (CCDC39)	ENSP00000420025.1:n.186-511A>C
ENST00000651046.1:c.*546A>C (CCDC39)	ENSP00000499175.1:n.*546A>C
ENST00000651922.1:n.2697A>C (CCDC39)
ENST00000652010.1:n.3448A>C (CCDC39)
ENST00000382584.8:c.1775-3005T>G (TTC14)	ENSP00000372027.4:n.1775-3005T>G
ENST00000473854.5:c.303-511A>C
ENST00000476379.5:c.*1196A>C	ENSP00000417960.1:n.*1196A>C
ENST00000489868.5:c.186-511A>C	ENSP00000420025.1:n.186-511A>C
NM_001288582.1:c.1775-3005T>G (TTC14)	NP_001275511.1:n.1775-3005T>G
NM_181426.1:c.*546A>C (CCDC39)	NP_852091.1:n.*546A>C
NM_181426.2:c.*546A>C (CCDC39) MANE Select	NP_852091.1:n.*546A>C
NM_001288582.2:c.1775-3005T>G (TTC14)	NP_001275511.1:n.1775-3005T>G