Canonical Allele Identifier: CA355301932

Gene: CCDC39

Linked Data

• gnomAD v4: 3-180659472-C-G
• MyVariant Identifiers: chr3:g.180377260C>G (hg19) ; chr3:g.180659472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659472C>G , CM000665.2:g.180659472C>G	GRCh38
NC_000003.11:g.180377260C>G , CM000665.1:g.180377260C>G	GRCh37
NC_000003.10:g.181859954C>G	NCBI36
NG_029581.1:g.25024G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.718G>C MANE Select	ENSP00000417960.2:p.Asp240His
ENST00000650641.1:n.797G>C
ENST00000650889.1:n.890G>C
ENST00000651046.1:c.718G>C	ENSP00000499175.1:p.Asp240His
ENST00000651818.1:n.860G>C
ENST00000652024.1:n.809G>C
ENST00000652408.1:n.855G>C
ENST00000442201.6:c.718G>C	ENSP00000405708.2:p.Asp240His
ENST00000476379.5:c.718G>C	ENSP00000417960.1:p.Asp240His
NM_181426.1:c.718G>C	NP_852091.1:p.Asp240His
NM_181426.2:c.718G>C MANE Select	NP_852091.1:p.Asp240His