Canonical Allele Identifier: CA2715617

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 455022
• ClinVar RCV Id: RCV000543187 ; RCV003222013 ; RCV001145558
• dbSNP Id: rs202027034
• ExAC: 3:180334123 G / T
• gnomAD v2: 3-180334123-G-T
• gnomAD v3: 3-180616335-G-T
• gnomAD v4: 3-180616335-G-T
• MyVariant Identifiers: chr3:g.180334123G>T (hg19) ; chr3:g.180616335G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180616335G>T , CM000665.2:g.180616335G>T	GRCh38
NC_000003.11:g.180334123G>T , CM000665.1:g.180334123G>T	GRCh37
NC_000003.10:g.181816817G>T	NCBI36
NG_029581.1:g.68161C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.2615C>A (CCDC39) MANE Select	ENSP00000417960.2:p.Thr872Lys
ENST00000489868.6:c.131C>A (CCDC39)	ENSP00000420025.1:p.Thr44Lys
ENST00000651046.1:c.2423C>A (CCDC39)	ENSP00000499175.1:p.Thr808Lys
ENST00000651922.1:n.1940C>A (CCDC39)
ENST00000652010.1:n.2691C>A (CCDC39)
ENST00000382584.8:c.1775-1045G>T (TTC14)	ENSP00000372027.4:n.1775-1045G>T
ENST00000442201.6:c.2615C>A	ENSP00000405708.2:p.Thr872Lys
ENST00000473854.5:c.166C>A
ENST00000476379.5:c.*439C>A	ENSP00000417960.1:n.*439C>A
ENST00000489868.5:c.131C>A	ENSP00000420025.1:p.Thr44Lys
NM_001288582.1:c.1775-1045G>T (TTC14)	NP_001275511.1:n.1775-1045G>T
NM_181426.1:c.2615C>A (CCDC39)	NP_852091.1:p.Thr872Lys
NM_181426.2:c.2615C>A (CCDC39) MANE Select	NP_852091.1:p.Thr872Lys
NM_001288582.2:c.1775-1045G>T (TTC14)	NP_001275511.1:n.1775-1045G>T