Canonical Allele Identifier: CA241122

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 194907
• ClinVar RCV Id: RCV000250356 ; RCV000724053 ; RCV001145561 ; RCV001087266
• dbSNP Id: rs139560004
• ExAC: 3:180334356 A / G
• gnomAD v2: 3-180334356-A-G
• gnomAD v3: 3-180616568-A-G
• gnomAD v4: 3-180616568-A-G
• MyVariant Identifiers: chr3:g.180334356A>G (hg19) ; chr3:g.180616568A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180616568A>G , CM000665.2:g.180616568A>G	GRCh38
NC_000003.11:g.180334356A>G , CM000665.1:g.180334356A>G	GRCh37
NC_000003.10:g.181817050A>G	NCBI36
NG_029581.1:g.67928T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.2534T>C (CCDC39) MANE Select	ENSP00000417960.2:p.Ile845Thr
ENST00000489868.6:c.50T>C (CCDC39)	ENSP00000420025.1:p.Ile17Thr
ENST00000651046.1:c.2342T>C (CCDC39)	ENSP00000499175.1:p.Ile781Thr
ENST00000651922.1:n.1859T>C (CCDC39)
ENST00000652010.1:n.2610T>C (CCDC39)
ENST00000382584.8:c.1775-812A>G (TTC14)	ENSP00000372027.4:n.1775-812A>G
ENST00000442201.6:c.2534T>C	ENSP00000405708.2:p.Ile845Thr
ENST00000473854.5:c.85T>C
ENST00000476379.5:c.*358T>C	ENSP00000417960.1:n.*358T>C
ENST00000489868.5:c.50T>C	ENSP00000420025.1:p.Ile17Thr
NM_001288582.1:c.1775-812A>G (TTC14)	NP_001275511.1:n.1775-812A>G
NM_181426.1:c.2534T>C (CCDC39)	NP_852091.1:p.Ile845Thr
NM_181426.2:c.2534T>C (CCDC39) MANE Select	NP_852091.1:p.Ile845Thr
NM_001288582.2:c.1775-812A>G (TTC14)	NP_001275511.1:n.1775-812A>G