Canonical Allele Identifier: CA16044034
Gene: DCC HGNC NCBI

Linked Data

ClinVar Variation Id: 375282
ClinVar RCV Id: RCV000416336 RCV000494699
dbSNP Id: rs1057519054
MyVariant Identifiers: chr18:g.50912431T>G (hg19) chr18:g.53386061T>G (hg38)
PubMed: PMID:28250454
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.53386061T>G , CM000680.2:g.53386061T>G GRCh38
NC_000018.9:g.50912431T>G , CM000680.1:g.50912431T>G GRCh37
NC_000018.8:g.49166429T>G NCBI36
NG_013341.1:g.1050890T>G
NG_013341.2:g.1050890T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442544.7:c.2378T>G MANE Select ENSP00000389140.2:p.Val793Gly
ENST00000304775.12:c.2179T>G
ENST00000412726.5:c.2309T>G ENSP00000397322.2:p.Val770Gly
ENST00000442544.6:c.2378T>G ENSP00000389140.2:p.Val793Gly
ENST00000581580.5:c.1343T>G ENSP00000464582.1:p.Val448Gly
NM_005215.3:c.2378T>G NP_005206.2:p.Val793Gly
XM_011525843.1:c.2378T>G XP_011524145.1:p.Val793Gly
XM_011525844.1:c.1343T>G XP_011524146.1:p.Val448Gly
XM_011525845.1:c.2378T>G XP_011524147.1:p.Val793Gly
XM_011525846.1:c.2378T>G XP_011524148.1:p.Val793Gly
XM_011525844.2:c.1343T>G XP_011524146.1:p.Val448Gly
XM_017025568.1:c.2378T>G XP_016881057.1:p.Val793Gly
XM_017025569.1:c.2378T>G XP_016881058.1:p.Val793Gly
XM_017025570.1:c.1343T>G XP_016881059.1:p.Val448Gly
NM_005215.4:c.2378T>G MANE Select NP_005206.2:p.Val793Gly
Search 100 bp 5'
Search 100 bp 3'