Canonical Allele Identifier: CA402513489

Gene: DCC

Linked Data

• dbSNP Id: rs2039876970
• gnomAD v3: 18-52906057-C-A
• gnomAD v4: 18-52906057-C-A
• MyVariant Identifiers: chr18:g.50432427C>A (hg19) ; chr18:g.52906057C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.52906057C>A , CM000680.2:g.52906057C>A	GRCh38
NC_000018.9:g.50432427C>A , CM000680.1:g.50432427C>A	GRCh37
NC_000018.8:g.48686425C>A	NCBI36
NG_013341.1:g.570886C>A
NG_013341.2:g.570886C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442544.7:c.426C>A MANE Select	ENSP00000389140.2:p.Phe142Leu
ENST00000304775.12:c.227C>A
ENST00000412726.5:c.357C>A	ENSP00000397322.2:p.Phe119Leu
ENST00000442544.6:c.426C>A	ENSP00000389140.2:p.Phe142Leu
ENST00000579349.1:c.347C>A
ENST00000580024.1:n.339C>A
ENST00000581559.1:c.347C>A	ENSP00000463463.1:n.347C>A
NM_005215.3:c.426C>A	NP_005206.2:p.Phe142Leu
XM_011525843.1:c.426C>A	XP_011524145.1:p.Phe142Leu
XM_011525845.1:c.426C>A	XP_011524147.1:p.Phe142Leu
XM_011525846.1:c.426C>A	XP_011524148.1:p.Phe142Leu
XM_017025568.1:c.426C>A	XP_016881057.1:p.Phe142Leu
XM_017025569.1:c.426C>A	XP_016881058.1:p.Phe142Leu
NM_005215.4:c.426C>A MANE Select	NP_005206.2:p.Phe142Leu