Canonical Allele Identifier: CA355301968

Gene: CCDC39

Linked Data

• dbSNP Id: rs1347216428
• gnomAD v2: 3-180377268-C-T
• gnomAD v3: 3-180659480-C-T
• gnomAD v4: 3-180659480-C-T
• MyVariant Identifiers: chr3:g.180377268C>T (hg19) ; chr3:g.180659480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659480C>T , CM000665.2:g.180659480C>T	GRCh38
NC_000003.11:g.180377268C>T , CM000665.1:g.180377268C>T	GRCh37
NC_000003.10:g.181859962C>T	NCBI36
NG_029581.1:g.25016G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.710G>A MANE Select	ENSP00000417960.2:p.Arg237Lys
ENST00000650641.1:n.789G>A
ENST00000650889.1:n.882G>A
ENST00000651046.1:c.710G>A	ENSP00000499175.1:p.Arg237Lys
ENST00000651818.1:n.852G>A
ENST00000652024.1:n.801G>A
ENST00000652408.1:n.847G>A
ENST00000442201.6:c.710G>A	ENSP00000405708.2:p.Arg237Lys
ENST00000476379.5:c.710G>A	ENSP00000417960.1:p.Arg237Lys
NM_181426.1:c.710G>A	NP_852091.1:p.Arg237Lys
NM_181426.2:c.710G>A MANE Select	NP_852091.1:p.Arg237Lys