Canonical Allele Identifier: CA355302006

Gene: CCDC39

Linked Data

• gnomAD v4: 3-180659489-A-G
• COSMIC: COSM86881
• MyVariant Identifiers: chr3:g.180377277A>G (hg19) ; chr3:g.180659489A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659489A>G , CM000665.2:g.180659489A>G	GRCh38
NC_000003.11:g.180377277A>G , CM000665.1:g.180377277A>G	GRCh37
NC_000003.10:g.181859971A>G	NCBI36
NG_029581.1:g.25007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.701T>C MANE Select	ENSP00000417960.2:p.Met234Thr
ENST00000650641.1:n.780T>C
ENST00000650889.1:n.873T>C
ENST00000651046.1:c.701T>C	ENSP00000499175.1:p.Met234Thr
ENST00000651818.1:n.843T>C
ENST00000652024.1:n.792T>C
ENST00000652408.1:n.838T>C
ENST00000442201.6:c.701T>C	ENSP00000405708.2:p.Met234Thr
ENST00000476379.5:c.701T>C	ENSP00000417960.1:p.Met234Thr
NM_181426.1:c.701T>C	NP_852091.1:p.Met234Thr
NM_181426.2:c.701T>C MANE Select	NP_852091.1:p.Met234Thr