Canonical Allele Identifier: CA2716099

Gene: CCDC39

Linked Data

• dbSNP Id: rs750867220
• ExAC: 3:180377228 C / A
• gnomAD v2: 3-180377228-C-A
• gnomAD v4: 3-180659440-C-A
• MyVariant Identifiers: chr3:g.180377228C>A (hg19) ; chr3:g.180659440C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659440C>A , CM000665.2:g.180659440C>A	GRCh38
NC_000003.11:g.180377228C>A , CM000665.1:g.180377228C>A	GRCh37
NC_000003.10:g.181859922C>A	NCBI36
NG_029581.1:g.25056G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.738+12G>T MANE Select	ENSP00000417960.2:n.738+12G>T
ENST00000650641.1:n.817+12G>T
ENST00000650889.1:n.910+12G>T
ENST00000651046.1:c.738+12G>T	ENSP00000499175.1:n.738+12G>T
ENST00000651818.1:n.880+12G>T
ENST00000652024.1:n.829+12G>T
ENST00000652408.1:n.875+12G>T
ENST00000442201.6:c.738+12G>T	ENSP00000405708.2:n.738+12G>T
ENST00000476379.5:c.738+12G>T	ENSP00000417960.1:n.738+12G>T
NM_181426.1:c.738+12G>T	NP_852091.1:n.738+12G>T
NM_181426.2:c.738+12G>T MANE Select	NP_852091.1:n.738+12G>T