Canonical Allele Identifier: CA158927
Gene: ERCC4 HGNC NCBI
COSMIC:
COSM4986833 (not active)
MyVariant.info:
GRCh38 chr16:g.13935176G>A
GRCh37 chr16:g.14029033G>A
Revel Score:
ENST00000311895 (MANE Select) 0.312
ENST00000389138 0.312
gnomAD v2:
16:14029033 G / A
gnomAD v3:
16:13935176 G / A
gnomAD v4:
chr16-13935176-G-A
Joint Max Group AF 0.12535026 (MID)
Genomes Max Group AF 0.07544981 (NFE)
Exomes Max Group AF 0.1255127 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13935176G>A , CM000678.2:g.13935176G>A GRCh38
NC_000016.9:g.14029033G>A , CM000678.1:g.14029033G>A GRCh37
NC_000016.8:g.13936534G>A NCBI36
NG_011442.1:g.20020G>A , LRG_463:g.20020G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682568.1:n.1322G>A
ENST00000682617.1:c.1382G>A ENSP00000507912.1:p.Arg461Gln
ENST00000682826.1:c.*558G>A ENSP00000507274.1:n.*558G>A
ENST00000682909.1:n.3284G>A
ENST00000683277.1:n.2889G>A
ENST00000683407.1:n.1252G>A
ENST00000683962.1:c.*938G>A ENSP00000506854.1:n.*938G>A
ENST00000311895.8:c.1244G>A MANE Select ENSP00000310520.7:p.Arg415Gln
ENST00000311895.7:c.1244G>A ENSP00000310520.7:p.Arg415Gln
ENST00000389138.7:n.521G>A
ENST00000573018.1:n.312G>A
NM_005236.2:c.1244G>A , LRG_463t1:c.1244G>A NP_005227.1:p.Arg415Gln
XM_011522424.1:c.1382G>A XP_011520726.1:p.Arg461Gln
XM_011522425.1:c.701G>A XP_011520727.1:p.Arg234Gln
XM_011522426.1:c.455G>A XP_011520728.1:p.Arg152Gln
XM_011522427.1:c.-107G>A XP_011520729.1:n.-107G>A
XR_932805.1:n.1403G>A
XM_011522424.3:c.1382G>A XP_011520726.1:p.Arg461Gln
XM_017023043.2:c.455G>A XP_016878532.1:p.Arg152Gln
NM_005236.3:c.1244G>A MANE Select NP_005227.1:p.Arg415Gln
Search 100 bp 5'
Search 100 bp 3'