Canonical Allele Identifier: CA402471682

Gene: DCC

Linked Data

• dbSNP Id: rs1383344737
• gnomAD v2: 18-50912470-T-C
• gnomAD v3: 18-53386100-T-C
• gnomAD v4: 18-53386100-T-C
• MyVariant Identifiers: chr18:g.50912470T>C (hg19) ; chr18:g.53386100T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.53386100T>C , CM000680.2:g.53386100T>C	GRCh38
NC_000018.9:g.50912470T>C , CM000680.1:g.50912470T>C	GRCh37
NC_000018.8:g.49166468T>C	NCBI36
NG_013341.1:g.1050929T>C
NG_013341.2:g.1050929T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000442544.7:c.2417T>C MANE Select	ENSP00000389140.2:p.Val806Ala
ENST00000304775.12:c.2218T>C
ENST00000412726.5:c.2348T>C	ENSP00000397322.2:p.Val783Ala
ENST00000442544.6:c.2417T>C	ENSP00000389140.2:p.Val806Ala
ENST00000581580.5:c.1382T>C	ENSP00000464582.1:p.Val461Ala
NM_005215.3:c.2417T>C	NP_005206.2:p.Val806Ala
XM_011525843.1:c.2417T>C	XP_011524145.1:p.Val806Ala
XM_011525844.1:c.1382T>C	XP_011524146.1:p.Val461Ala
XM_011525845.1:c.2417T>C	XP_011524147.1:p.Val806Ala
XM_011525846.1:c.2417T>C	XP_011524148.1:p.Val806Ala
XM_011525844.2:c.1382T>C	XP_011524146.1:p.Val461Ala
XM_017025568.1:c.2417T>C	XP_016881057.1:p.Val806Ala
XM_017025569.1:c.2417T>C	XP_016881058.1:p.Val806Ala
XM_017025570.1:c.1382T>C	XP_016881059.1:p.Val461Ala
NM_005215.4:c.2417T>C MANE Select	NP_005206.2:p.Val806Ala