Canonical Allele Identifier: CA7910788
Gene: ERCC4 HGNC NCBI

Linked Data

ClinVar Variation Id: 697490
ClinVar RCV Id: RCV000864380 RCV000989536 RCV001358163 RCV003938256 RCV002259039 RCV003153877
dbSNP Id: rs201652412
ExAC: 16:14042100 G / A
gnomAD v2: 16-14042100-G-A
gnomAD v3: 16-13948243-G-A
gnomAD v4: 16-13948243-G-A
MyVariant Identifiers: chr16:g.14042100G>A (hg19) chr16:g.13948243G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13948243G>A , CM000678.2:g.13948243G>A GRCh38
NC_000016.9:g.14042100G>A , CM000678.1:g.14042100G>A GRCh37
NC_000016.8:g.13949601G>A NCBI36
NG_011442.1:g.33087G>A , LRG_463:g.33087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682617.1:c.2785G>A ENSP00000507912.1:p.Glu929Lys
ENST00000683962.1:c.*2341G>A ENSP00000506854.1:n.*2341G>A
ENST00000311895.8:c.2647G>A MANE Select ENSP00000310520.7:p.Glu883Lys
ENST00000311895.7:c.2647G>A ENSP00000310520.7:p.Glu883Lys
ENST00000389138.7:n.1924G>A
NM_005236.2:c.2647G>A , LRG_463t1:c.2647G>A NP_005227.1:p.Glu883Lys
XM_011522424.1:c.2785G>A XP_011520726.1:p.Glu929Lys
XM_011522425.1:c.2104G>A XP_011520727.1:p.Glu702Lys
XM_011522426.1:c.1858G>A XP_011520728.1:p.Glu620Lys
XM_011522427.1:c.1297G>A XP_011520729.1:p.Glu433Lys
XR_932805.1:n.2806G>A
XM_011522424.3:c.2785G>A XP_011520726.1:p.Glu929Lys
XM_017023043.2:c.1858G>A XP_016878532.1:p.Glu620Lys
NM_005236.3:c.2647G>A MANE Select NP_005227.1:p.Glu883Lys
Search 100 bp 5'
Search 100 bp 3'