Canonical Allele Identifier: CA548337194

Gene: CCDC39

Linked Data

• dbSNP Id: rs1201828079
• gnomAD v2: 3-180377423-T-A
• gnomAD v4: 3-180659635-T-A
• MyVariant Identifiers: chr3:g.180377423T>A (hg19) ; chr3:g.180659635T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659635T>A , CM000665.2:g.180659635T>A	GRCh38
NC_000003.11:g.180377423T>A , CM000665.1:g.180377423T>A	GRCh37
NC_000003.10:g.181860117T>A	NCBI36
NG_029581.1:g.24861A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.609+42A>T MANE Select	ENSP00000417960.2:n.609+42A>T
ENST00000650641.1:n.688+42A>T
ENST00000650889.1:n.781+42A>T
ENST00000651046.1:c.609+42A>T	ENSP00000499175.1:n.609+42A>T
ENST00000651818.1:n.751+42A>T
ENST00000652024.1:n.700+42A>T
ENST00000652408.1:n.746+42A>T
ENST00000442201.6:c.609+42A>T	ENSP00000405708.2:n.609+42A>T
ENST00000476379.5:c.609+42A>T	ENSP00000417960.1:n.609+42A>T
NM_181426.1:c.609+42A>T	NP_852091.1:n.609+42A>T
NM_181426.2:c.609+42A>T MANE Select	NP_852091.1:n.609+42A>T