Canonical Allele Identifier: CA355302168

Gene: CCDC39

Linked Data

• gnomAD v4: 3-180659520-T-G
• MyVariant Identifiers: chr3:g.180377308T>G (hg19) ; chr3:g.180659520T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659520T>G , CM000665.2:g.180659520T>G	GRCh38
NC_000003.11:g.180377308T>G , CM000665.1:g.180377308T>G	GRCh37
NC_000003.10:g.181860002T>G	NCBI36
NG_029581.1:g.24976A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.670A>C MANE Select	ENSP00000417960.2:p.Ile224Leu
ENST00000650641.1:n.749A>C
ENST00000650889.1:n.842A>C
ENST00000651046.1:c.670A>C	ENSP00000499175.1:p.Ile224Leu
ENST00000651818.1:n.812A>C
ENST00000652024.1:n.761A>C
ENST00000652408.1:n.807A>C
ENST00000442201.6:c.670A>C	ENSP00000405708.2:p.Ile224Leu
ENST00000476379.5:c.670A>C	ENSP00000417960.1:p.Ile224Leu
NM_181426.1:c.670A>C	NP_852091.1:p.Ile224Leu
NM_181426.2:c.670A>C MANE Select	NP_852091.1:p.Ile224Leu