Canonical Allele Identifier: CA355302053

Gene: CCDC39

Linked Data

• dbSNP Id: rs1192483792
• gnomAD v2: 3-180377287-T-C
• gnomAD v4: 3-180659499-T-C
• MyVariant Identifiers: chr3:g.180377287T>C (hg19) ; chr3:g.180659499T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659499T>C , CM000665.2:g.180659499T>C	GRCh38
NC_000003.11:g.180377287T>C , CM000665.1:g.180377287T>C	GRCh37
NC_000003.10:g.181859981T>C	NCBI36
NG_029581.1:g.24997A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.691A>G MANE Select	ENSP00000417960.2:p.Ile231Val
ENST00000650641.1:n.770A>G
ENST00000650889.1:n.863A>G
ENST00000651046.1:c.691A>G	ENSP00000499175.1:p.Ile231Val
ENST00000651818.1:n.833A>G
ENST00000652024.1:n.782A>G
ENST00000652408.1:n.828A>G
ENST00000442201.6:c.691A>G	ENSP00000405708.2:p.Ile231Val
ENST00000476379.5:c.691A>G	ENSP00000417960.1:p.Ile231Val
NM_181426.1:c.691A>G	NP_852091.1:p.Ile231Val
NM_181426.2:c.691A>G MANE Select	NP_852091.1:p.Ile231Val