Canonical Allele Identifier: CA278485413
Gene: ERCC4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.13947855G>C
GRCh37 chr16:g.14041712G>C
Revel Score:
ENST00000311895 (MANE Select) 0.128
ENST00000389138 0.128
gnomAD v3:
16:13947855 G / C
gnomAD v4:
chr16-13947855-G-C
Joint Max Group AF 0.00002255 (AMR)
Genomes Max Group AF 0.00002262 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar Allele:
3668096
ClinVar RCV:
RCV004982130
ClinVar Variation:
3509919
dbSNP:
922325785
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947855G>C , CM000678.2:g.13947855G>C GRCh38
NC_000016.9:g.14041712G>C , CM000678.1:g.14041712G>C GRCh37
NC_000016.8:g.13949213G>C NCBI36
NG_011442.1:g.32699G>C , LRG_463:g.32699G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2397G>C ENSP00000507912.1:p.Lys799Asn
ENST00000683962.1:c.*1953G>C ENSP00000506854.1:n.*1953G>C
ENST00000311895.8:c.2259G>C MANE Select ENSP00000310520.7:p.Lys753Asn
ENST00000311895.7:c.2259G>C ENSP00000310520.7:p.Lys753Asn
ENST00000389138.7:n.1536G>C
ENST00000462862.1:c.572G>C ENSP00000461322.1:n.572G>C
NM_005236.2:c.2259G>C , LRG_463t1:c.2259G>C NP_005227.1:p.Lys753Asn
XM_011522424.1:c.2397G>C XP_011520726.1:p.Lys799Asn
XM_011522425.1:c.1716G>C XP_011520727.1:p.Lys572Asn
XM_011522426.1:c.1470G>C XP_011520728.1:p.Lys490Asn
XM_011522427.1:c.909G>C XP_011520729.1:p.Lys303Asn
XR_932805.1:n.2418G>C
XM_011522424.3:c.2397G>C XP_011520726.1:p.Lys799Asn
XM_017023043.2:c.1470G>C XP_016878532.1:p.Lys490Asn
NM_005236.3:c.2259G>C MANE Select NP_005227.1:p.Lys753Asn
Search 100 bp 5'
Search 100 bp 3'