Canonical Allele Identifier: CA355301866

Gene: CCDC39

Linked Data

• MyVariant Identifiers: chr3:g.180377247C>A (hg19) ; chr3:g.180659459C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659459C>A , CM000665.2:g.180659459C>A	GRCh38
NC_000003.11:g.180377247C>A , CM000665.1:g.180377247C>A	GRCh37
NC_000003.10:g.181859941C>A	NCBI36
NG_029581.1:g.25037G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.731G>T MANE Select	ENSP00000417960.2:p.Cys244Phe
ENST00000650641.1:n.810G>T
ENST00000650889.1:n.903G>T
ENST00000651046.1:c.731G>T	ENSP00000499175.1:p.Cys244Phe
ENST00000651818.1:n.873G>T
ENST00000652024.1:n.822G>T
ENST00000652408.1:n.868G>T
ENST00000442201.6:c.731G>T	ENSP00000405708.2:p.Cys244Phe
ENST00000476379.5:c.731G>T	ENSP00000417960.1:p.Cys244Phe
NM_181426.1:c.731G>T	NP_852091.1:p.Cys244Phe
NM_181426.2:c.731G>T MANE Select	NP_852091.1:p.Cys244Phe