Canonical Allele Identifier: CA355302664

Gene: CCDC39

Linked Data

• dbSNP Id: rs1488097810
• gnomAD v2: 3-180377503-T-G
• gnomAD v3: 3-180659715-T-G
• gnomAD v4: 3-180659715-T-G
• MyVariant Identifiers: chr3:g.180377503T>G (hg19) ; chr3:g.180659715T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659715T>G , CM000665.2:g.180659715T>G	GRCh38
NC_000003.11:g.180377503T>G , CM000665.1:g.180377503T>G	GRCh37
NC_000003.10:g.181860197T>G	NCBI36
NG_029581.1:g.24781A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.571A>C MANE Select	ENSP00000417960.2:p.Ile191Leu
ENST00000650641.1:n.650A>C
ENST00000650889.1:n.743A>C
ENST00000651046.1:c.571A>C	ENSP00000499175.1:p.Ile191Leu
ENST00000651818.1:n.713A>C
ENST00000652024.1:n.662A>C
ENST00000652408.1:n.708A>C
ENST00000442201.6:c.571A>C	ENSP00000405708.2:p.Ile191Leu
ENST00000476379.5:c.571A>C	ENSP00000417960.1:p.Ile191Leu
NM_181426.1:c.571A>C	NP_852091.1:p.Ile191Leu
NM_181426.2:c.571A>C MANE Select	NP_852091.1:p.Ile191Leu