Canonical Allele Identifier: CA8967136
Gene: DCC HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.53339808G>A
GRCh37 chr18:g.50866178G>A
Revel Score:
ENST00000442544 (MANE Select) 0.117
ENST00000304775 0.117
ENST00000412726 0.117
gnomAD v2:
18:50866178 G / A
gnomAD v3:
18:53339808 G / A
gnomAD v4:
chr18-53339808-G-A
Joint Max Group AF 0.0010857 (EAS)
Genomes Max Group AF 0.00133599 (EAS)
Exomes Max Group AF 0.00095927 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.53339808G>A , CM000680.2:g.53339808G>A GRCh38
NC_000018.9:g.50866178G>A , CM000680.1:g.50866178G>A GRCh37
NC_000018.8:g.49120176G>A NCBI36
NG_013341.1:g.1004637G>A
NG_013341.2:g.1004637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442544.7:c.2260G>A MANE Select ENSP00000389140.2:p.Val754Met
ENST00000304775.12:c.2061G>A
ENST00000412726.5:c.2191G>A ENSP00000397322.2:p.Val731Met
ENST00000442544.6:c.2260G>A ENSP00000389140.2:p.Val754Met
ENST00000581580.5:c.1225G>A ENSP00000464582.1:p.Val409Met
NM_005215.3:c.2260G>A NP_005206.2:p.Val754Met
XM_011525843.1:c.2260G>A XP_011524145.1:p.Val754Met
XM_011525844.1:c.1225G>A XP_011524146.1:p.Val409Met
XM_011525845.1:c.2260G>A XP_011524147.1:p.Val754Met
XM_011525846.1:c.2260G>A XP_011524148.1:p.Val754Met
XM_011525844.2:c.1225G>A XP_011524146.1:p.Val409Met
XM_017025568.1:c.2260G>A XP_016881057.1:p.Val754Met
XM_017025569.1:c.2260G>A XP_016881058.1:p.Val754Met
XM_017025570.1:c.1225G>A XP_016881059.1:p.Val409Met
NM_005215.4:c.2260G>A MANE Select NP_005206.2:p.Val754Met
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