Canonical Allele Identifier: CA355302135

Gene: CCDC39

Linked Data

• ClinVar Variation Id: 3068014
• ClinVar RCV Id: RCV003991694
• MyVariant Identifiers: chr3:g.180377302G>A (hg19) ; chr3:g.180659514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659514G>A , CM000665.2:g.180659514G>A	GRCh38
NC_000003.11:g.180377302G>A , CM000665.1:g.180377302G>A	GRCh37
NC_000003.10:g.181859996G>A	NCBI36
NG_029581.1:g.24982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.676C>T MANE Select	ENSP00000417960.2:p.Gln226Ter
ENST00000650641.1:n.755C>T
ENST00000650889.1:n.848C>T
ENST00000651046.1:c.676C>T	ENSP00000499175.1:p.Gln226Ter
ENST00000651818.1:n.818C>T
ENST00000652024.1:n.767C>T
ENST00000652408.1:n.813C>T
ENST00000442201.6:c.676C>T	ENSP00000405708.2:p.Gln226Ter
ENST00000476379.5:c.676C>T	ENSP00000417960.1:p.Gln226Ter
NM_181426.1:c.676C>T	NP_852091.1:p.Gln226Ter
NM_181426.2:c.676C>T MANE Select	NP_852091.1:p.Gln226Ter